| 释义 |
spinal muscular atrophy
spinal muscular atrophyn. Any of several forms of a hereditary, progressive disease that involves loss of motor neurons in the spinal cord and brainstem and is characterized by muscle weakness and atrophy that vary in severity and age of onset.EncyclopediaSeeatrophyspinal muscular atrophy
atrophy [at´ro-fe] 1. decrease in size of a normally developed organ or tissue; see also wasting" >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" >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" >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.spinal muscular atrophy (SMA), a heterogeneous group of degenerative diseases of the anterior horn cells in the spinal cord and motor nuclei of the brainstem; all are characterized by weakness. Upper motor neurons remain normal. These diseases include Werdnig-Hoffmann disease, spinal muscular atrophy types I and II (SMA1, SMA2); and Kugelberg-Welander disease, spinal muscular atrophy type III (SMA3).
See also: Fazio-Londe disease. spinal muscular atrophyn. Any of several forms of a hereditary, progressive disease that involves loss of motor neurons in the spinal cord and brainstem and is characterized by muscle weakness and atrophy that vary in severity and age of onset.SMN1 A gene on chromosome 5q13.2 that encodes a survival motor neuron protein which is a component of an import snRNP complex composed of KPNB1, RNUT1 and ZNF259. It interacts with OSTF1, LSM10 and LSM11.
Molecular pathology
Defects of SMN1 cause spinal muscular atrophy types 1–4. The severity of disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only a low amount of full-length transcripts that encode for a protein identical to SMN1.spi·nal mus·cu·lar at·ro·phy (SMA) (spī'năl mŭs'kyū-lăr at'rŏ-fē) A heterogeneous group of degenerative diseases of the anterior horn cells in the spinal cord and motor nuclei of the brainstem; all are characterized by weakness. Upper motor neurons remain normal. These diseases include Werdnig-Hoffmann disease (SMA type 1), SMA type 2, and Kugelberg-Welander disease (SMA type 3).
See also: Fazio-Londe diseasespi·nal mus·cu·lar at·ro·phy (spī'năl mŭs'kyū-lăr at'rŏ-fē) Heterogeneous group of degenerative diseases of anterior horn cells in spinal cord and motor nuclei of brainstem; all are characterized by weakness. AcronymsSeeshape memory alloy |