Dystrophy
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  Dystrophy



Dystrophy

    Partial atrophy of tissue or an organ as a result of imperfect cell nutrition.

RELATED TERMS
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Atrophy
A defect or failure of cell nutrition manifested as decrease in size or healthiness of an organ or tissue.

Tissue
Biological tissue is a group of cells that perform a similar function.The study of tissues is known as histology, or, in connection with disease, histopathology.The classical tools for studying the tissues are the wax block, the tissue stain, and the optical microscope, though developments in electron microscopy, immunofluorescence, and frozen sections have all added to the sum of knowledge in the last couple of decades.

Organ
A structural unit of an animal or plant that serves a specific function.

Cell
Fundamental structural unit of all life. The cell consists primarily of an outer plasma membrane, which separates it from the environment; the genetic material (DNA), which encodes heritable information for the maintainance of life; and the cytoplasm, a heterogeneous assemblage of ions, molecules, and fluid.



SIMILAR TERMS
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Dysthymia
A type of depression involving long-term, chronic symptoms that are not disabling, but keep a person from functioning at "full steam" or from feeling good. Dysthymia is a less severe type of depression than what is accorded the diagnosis of major depression. However, people with dysthymia may also sometimes experience major depressive episodes, suggesting that there is a continuum between dysthymia and major depression.

Dysthymic Disorder
Chronically depressed mood that occurs for most of the day more days than not for at least 2 years. The required minimum duration in children to make this diagnosis is 1 year. During periods of depressed mood, at least 2 of the following additional symptoms are present: poor appetite or overeating, insomnia or hypersomnia, low energy or fatigue, low self esteem, poor concentration or difficulty making decisions, and feelings of hopelessness. (DSM-IV)

Dysthymic Disorders
Chronically depressed mood that occurs for most of the day more days than not for at least 2 years. The required minimum duration in children to make this diagnosis is 1 year. During periods of depressed mood, at least 2 of the following additional symptoms are present: poor appetite or overeating, insomnia or hypersomnia, low energy or fatigue, low self esteem, poor concentration or difficulty making decisions, and feelings of hopelessness. (DSM-IV)

Dystocia
When labor does not progress. Uterine dystocia is when contractions donot intensify; shoulder dystocia is when a baby's

Dystocia, fetal
Dystocia caused by the fetus due to its size (too big), shape or position in the uterus.

Dystocias
Difficult childbirth or labor.

Dystonia
Dystonia is a neurological movement disorder with involuntary muscle contractions, forcing specific parts of the body into abnormal movements or positions, sometimes causing pain.

Dystonia Deformans Musculorum
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete pentrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

Dystonia Deformans Progressiva
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete pentrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

Dystonia Musculorum Deformans
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete pentrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

Dystonia musculorum deformans (DMD)
Also called torsion dystonia, this is a fortunately rare, generalized dystonia (a state of abnormal -- either excessive of inadequate -- muscle tone) that can be inherited, usually begins in childhood, and becomes progressively worse. It can leave individuals seriously disabled and confined to a wheelchair.

Dystonia Syndrome, Blepharospasm-Oromandibular
A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108)

Dystonia Syndromes, Blepharospasm-Oromandibular
A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108)

Dystonia, Blepharospasm-Oromandibular
A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108)

Dystonia, Diurnal
A persistent attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)

Dystonia, dopa-responsive (DRD)
A condition that typically begins in childhood or adolescence with progressive difficulty in walking and, in some cases, spasticity and can be successfully treated with drugs. Segawa dystonia is an important variant of DRD. In Segawa dystonia, the symptoms fluctuate during the day from relative mobility in the morning to increasing disability in the afternoon and evening and after exercise. DRD may not only be rare but also rarely diagnosed since it mimics some forms of cerebral palsy.

Dystonia, Hypnogenic Paroxysmal
A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)

Dystonia, idiopathic torsion
A form of dystonia known as early-onset torsion dystonia (also called generalized torsion dystonia) begins in childhood around the age of 12. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. Early-onset torsion dystonia is not fatal, but it can be severely debilitating.

Dystonia, Idiopathic Torsion
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete pentrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

Dystonia, Limb
A persistent attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)

Dystonia, Muscle
A persistent attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)

Dystonia, Nocturnal Paroxysmal
A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)

Dystonia, oromandibular
Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. The jaw may be pulled either open or shut, and speech and swallowing can be difficult.

Dystonia, Paroxysmal
A persistent attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)

Dystonia, Segawa
An important variant form of dopa-responsive dystonia (DRD). DRD typically begins in childhood or adolescence with progressive difficulty in walking and, in some cases, with spasticity. DRD, by definition, can be successfully treated with dopa. In Segawa dystonia, the symptoms fluctuate during the day from relative mobility in the morning to increasingly worse disability in the afternoon and evening and after exercise.

Dystonia, Sleep-Related
A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)

Dystonia, torsion
A form of dystonia known as early-onset torsion dystonia (also called idiopathic or generalized torsion dystonia) begins in childhood around the age of 12. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. Early-onset torsion dystonia is not fatal, but it can be severely debilitating. Most children with the disorder are unable to perform the simplest of motor tasks and are confined to a wheelchair by the time they reach adulthood.

Dystonias, Blepharospasm-Oromandibular
A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108)

Dystonias, Hypnogenic Paroxysmal
A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)

Dystonias, Idiopathic Torsion
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete pentrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

Dystonias, Nocturnal Paroxysmal
A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)

Dystonias, Sleep-Related
A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)

Dystonias, Torsion
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete pentrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

Dystonic-Rigid Cerebral Palsies
A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)

Dystonic-Rigid Cerebral Palsy
A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)

Dystopia
Displacement.

Dystrophia Brevicollis Congenita
A condition characterized by shortness of the neck resulting from reduction in the number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. The hairline is low and the motion of the neck is limited. (Dorland, 27th ed)

Dystrophia Brevicollis Congenitas
A condition characterized by shortness of the neck resulting from reduction in the number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. The hairline is low and the motion of the neck is limited. (Dorland, 27th ed)

Dystrophia Myotonica
An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)

Dystrophic epidermolysis bullosa
A blistering skin condition inherited in both autosomal dominant and recessive manners and in which the filaments that anchor the epidermis to the underlying dermis are either absent or do not function. This is due to defects in the gene for type VII collagen, a fibrous protein that is the main component of the anchoring filaments.

Dystrophic Epidermolysis Bullosa
Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms.

Dystrophies, Adult Neuroaxonal
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

Dystrophies, Cervical Sympathetic
A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)

Dystrophies, Congenital Myotonic
An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)

Dystrophies, Corneal Granular
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Dystrophies, Corneal Macular
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Dystrophies, Corneal Stromal
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Dystrophies, Facioscapulohumeral Muscular
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicuaris oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

Dystrophies, Hereditary Corneal
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Dystrophies, Infantile Neuroaxonal
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

Dystrophies, Juvenile Neuroaxonal
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

Dystrophies, Landouzy-Dejerine
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicuaris oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

Dystrophies, Limb-Girdle Muscular
A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).

Dystrophies, Muscular
A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).

Dystrophies, Myotonic
An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)

Dystrophies, Neuroaxonal
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

Dystrophies, Ocular Muscular
A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)

Dystrophies, Oculocerebrorenal
A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

Dystrophies, Oculopharyngeal Muscular
A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).

Dystrophies, Pseudohypertrophic Muscular
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Dystrophies, Reflex Sympathetic
A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)

Dystrophies, Rod Cone
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

Dystrophies, Rod-Cone
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

Dystrophies, Scapuloperoneal Muscular
A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).

Dystrophin
A protein, a chemical substance made by muscle fibers.

Dystrophy, Adult Neuroaxonal
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

Dystrophy, autoimmune polyendocrinopathy
Dystrophy, autoimmune polyendocrinopathy-candidiasis-ectodermal (APECED) is a genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism -- underfunction of the parathyroid glands which control calcium, candidiasis (yeast infection), and adrenal insufficiency (underfunction of the adrenal gland). APECED was the first systemic (bodywide) autoimmune disease found due to a defect in a single gene.

Dystrophy, Becker Muscular
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Dystrophy, Cervical Sympathetic
A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)

Dystrophy, cone
A disease of the cones, the specialized light-sensitive cells that act as photoreceptors in the retina of the eye, providing sharp central vision and color vision. The cone dystrophies are a form of genetic macular degeneration characterized by progressive deterioration of the cones that leads to the distinctive triad of loss of color vision, photophobia, and reduced central vision. Cone dystrophy genes have been mapped to chromosome regions 6p21.1, 6q25-q26, 17p12-13, and Xp21.1-p11.3. In region 6p21.1, mutations have been found in the gene that encodes GCAP1, a key component in the recovery of photoreceptor cells to the dark-adapted state after exposure to a light stimulus.

Dystrophy, Congenital Myotonic
An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)

Dystrophy, Corneal Granular
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Dystrophy, Corneal Macular
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Dystrophy, Corneal Stromal
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Dystrophy, Duchenne Muscular
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Dystrophy, Emery-Dreifuss Muscular
An X-linked recessive muscular dystrophy that may present in children or adults. The disease is characterized by a clinical triad: (1) CONTRACTURE of the elbows, ACHILLES TENDON, and posterior cervical muscles; (2) slowly progressive muscle atrophy and weakness; and (3) a cardiomyopathy usually presenting as an atrioventricular block (HEART BLOCK). The weakness initially affects the upper arm and chest muscles, followed by pelvic and leg muscle paresis. Sudden death (DEATH, SUDDEN, CARDIAC) may occur as the result of the cardiac conduction defect. (Adams et al., Principles of Neurology, 6th ed, p1419; Curr Opin Neurol 1997;10(5):421-425)

Dystrophy, Facioscapulohumeral Muscular
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicuaris oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

Dystrophy, Hereditary Corneal
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Dystrophy, Infantile Neuroaxonal
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

Dystrophy, Juvenile Neuroaxonal
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

Dystrophy, Landouzy-Dejerine
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicuaris oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

Dystrophy, Limb-Girdle Muscular
A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).

Dystrophy, muscular
One of a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. The major forms of muscular dystrophy include: Duchenne muscular dystrophy; Becker muscular dystrophy; limb-girdle muscular dystrophy; facioscapulohumeral muscular dystrophy; congenital muscular dystrophy; oculopharyngeal muscular dystrophy; distal muscular dystrophy; Emery-Dreifuss muscular dystrophy and myotonic dystrophy. Muscular dystrophy can affect people of all ages. Although some forms first become apparent in infancy or childhood, others may not appear until middle age or later. Duchenne muscular dystrophy is the most common kind of muscular dystrophy affecting children. Myotonic dystrophy is the most common of these diseases in adults.

Dystrophy, Muscular
A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).

Dystrophy, myotonic
An inherited disease in which the muscles contract but have decreasing power to relax -- this phenomenon is termed myotonia (irritability and prolonged contraction of muscles). The disease also produces leads to a mask-like expressionless face, premature balding, cataracts, and heart arrhythmias (abnormalities in heart rhythm). The onset of such problems is usually in young adulthood. However, onset can be at any age and the disease is extremely variable in the degree of severity.

Dystrophy, Myotonic
An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)

Dystrophy, Neuroaxonal
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

Dystrophy, Ocular Muscular
A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)

Dystrophy, Oculocerebrorenal
A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

Dystrophy, Oculopharyngeal Muscular
A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).

Dystrophy, Pseudohypertrophic Muscular
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Dystrophy, Reflex Sympathetic
A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)

Dystrophy, Rod Cone
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

Dystrophy, Rod-Cone
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

Dystrophy, Scapuloperoneal Muscular
A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).



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Dimorphism
Having two forms or manifestations, though of the same species, as in a juvenile and adult form, or a male and a female form. Though usually used to refer to physical form and appearance, the meaning of this term can be extended by analogy to apply to sex differences in behavior and language.

Dirty joke
A sexual example of what in anthropology is known as a joking relationship, that is a socially permissible manner of communication between people who are otherwise socially forbidden to talk together, either in general or on a specific topic, like sex.

Dissociate
To separate or sunder that which is developing as a unity, or has become one, so that it becomes two or more unrelated or partially related entities. In mental life and its expression, these entities are experienced phenomenologically as trance states, alternative states of consciousness, fugue states, or multiple personalities.

Diurnal
Recurring daily, or in the daytime.

Dyspareunia
A condition or syndrome of difficult or painful coitus, of variable etiology, in men and women [from Greek, dyspareunos, badly mated]. The term is used chiefly in reference to women, but applies equally well to men. the experience of pain, especially in the sex organs or within the pelvis, during sexual intercourse. It may also include coital migraine headache. It may occur in either sex, but traditionally has been named dyspareunia in women and coital pain in men. Dyspareunia may be a manifestation of hypophilia.

Dystrophy

Dendrophilia
Love of trees. It is not a paraphilia.

Displacement paraphilia
One of the paraphilias in which an intrinsic element becomes developmentally dislocated and repositioned in the lovemap, thus changing it from normophilic to paraphilic.

Dominatrix
A female in the sadomasochistic role of total domination and discipline.

Drag queen
Vernacular term for a gynemimetic.

Diet plan
A plan of the meals a person will have in order to follow a specific diet.

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