juvenile spinal muscular atrophy
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Related to juvenile spinal muscular atrophy: Infantile spinal muscular atrophy, spinal muscle atrophy
1. decrease in size of a normally developed organ or tissue; see also wasting.
2. to undergo or cause such a decrease. adj., adj atroph´ic.
acute yellow atrophy massive hepatic necrosis.
circumscribed cerebral atrophy pick's disease.
disuse atrophy atrophy of a tissue or organ as a result of inactivity or diminished function.
gyrate atrophy of choroid and retina a rare hereditary, slowly progressive atrophy of the choroid and pigment epithelium of the retina; inherited as an autosomal recessive trait.
juvenile spinal muscular atrophy Kugelberg-Welander syndrome.
Leber's optic atrophy Leber's optic neuropathy.
lobar atrophy pick's disease.
myelopathic muscular atrophy muscular atrophy due to lesion of the spinal cord, as in spinal muscular atrophy.
olivopontocerebellar atrophy any of a group of progressive hereditary disorders involving degeneration of the cerebellar cortex, middle peduncles, ventral pontine surface, and olivary nuclei. They occur in the young to middle-aged and are characterized by ataxia, dysarthria, and tremors similar to those of parkinsonism.
peroneal atrophy (peroneal muscular atrophy) progressive neuromuscular atrophy.
progressive neuromuscular atrophy hereditary muscular atrophy beginning in the muscles supplied by the fibular (peroneal) nerves, progressing slowly to involve the muscles of the hands and arms. Called also peroneal or peroneal muscular atrophy and Charcot-Marie-Tooth disease.
senile atrophy the natural atrophy of tissues and organs occurring with advancing age.
spinal muscular atrophy progressive degeneration of the motor cells of the spinal cord, beginning usually in the small muscles of the hands, but in some cases (scapulohumeral type) in the upper arm and shoulder muscles, and progressing slowly to the leg muscles. Called also Aran-Duchenne disease, Cruveilhier's disease, and Duchenne's disease.
subacute yellow atrophy submassive necrosis of the liver associated with broad zones of necrosis, due to viral, toxic, or drug-induced hepatitis; it may have an acute course with death from liver failure occurring after several weeks, or clinical recovery may be associated with regeneration of the parenchymal cells.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
spinal mus·cu·lar at·ro·phy type III[MIM*253400]
the juvenile form, with onset in childhood or adolescence; characterized by progressive proximal muscular weakness and wasting, primarily in the pelvic girdle, followed by distal muscle involvement; caused by degeneration of motor neurons in the anterior horns of the spinal cord; autosomal recessive inheritance, caused by mutation in the SMN1 gene on 5q.
Synonym(s): juvenile muscular atrophy, juvenile spinal muscular atrophy, Kugelberg-Welander disease, Wohlfart-Kugelberg-Welander disease
Farlex Partner Medical Dictionary © Farlex 2012
spinal muscular atrophy type 3An autosomal recessive condition (OMIM:253400) characterised by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Disease severity is inversely proportional to the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. SMA3 is a more banal form than SMA1 or SMA2, with onset after 18 months of age; patients can stand, walk and survive into adulthood.
Defects of SMN1, which encodes a survival motor neuron protein, cause spinal muscular atrophy types 1–4.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
ju·ve·nile spi·nal mus·cu·lar at·ro·phy(jū'vĕ-nil spī'năl mŭs'kyū-lăr at'rŏ-fē)
Slowly progressive proximal muscular weakness and wasting, beginning in childhood, caused by degeneration of motor neurons in the anterior horns of the spinal cord; onset usually between 2 and 17 years of age; usually autosomal recessive inheritance.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
Kugelberg,Eric, Swedish neurologist, 1913-1983.
Kugelberg-Welander disease - slowly progressive proximal muscular weakness with fasciculation and wasting. Synonym(s): juvenile spinal muscular atrophy; Wohlfart-Kugelberg-Welander disease
Müeller-Kugelberg syndrome - see under Müeller
Wohlfart-Kugelberg-Welander disease - Synonym(s): Kugelberg-Welander disease
Medical Eponyms © Farlex 2012