Spinal Muscular atrophy other forms: Difference between revisions
(New page: Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined. All forms of SMA have in common weakness caused by denervation, that is...) |
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The [[non-5q13]] associated spinal muscular atrophies, are a heterogeneous group of [[motor neuron diseases]] associated with [[mutations]] in a variety of different known genes and others not yet defined (e.g. [[X linked, [[autosomal dominant]], mutations in [[IGHMBP2]] gene on [[chromosome]] 11q)other than the gene on chromosome 5. Patients with these disorders generally have some clinical characteristics that can help differentiate them from those with 5q13-associated or “proximal” SMA (5q13. All forms of SMA have in common weakness caused by denervation, that is, the muscle atrophies because it has lost the signal to contract due to loss of the innervating nerve. Spinal muscular atrophy only affects motor nerves. Heritable disorders that cause both weakness due to motor denervation along with sensory impairment due to sensory denervation are known by the inclusive label [[Charcot-Marie-Tooth]] or Hereditary Motor Sensory Neuropathy. The term spinal muscular atrophy thus refers to atrophy of muscles due to loss of motor neurons within the spinal cord. | |||
* Hereditary Bulbo-Spinal SMA [[Kennedy's disease]] (X linked, Androgen receptor) | * Hereditary Bulbo-Spinal SMA [[Kennedy's disease]] (X linked, Androgen receptor) | ||
* Spinal Muscular Atrophy with Respiratory Distress (SMARD 1) (chromsome 11, IGHMBP2 gene) | * Spinal Muscular Atrophy with Respiratory Distress (SMARD 1) (chromsome 11, IGHMBP2 gene) | ||
* Distal SMA with upper limb predominance ([[chromosome 7 (human)|chromosome 7]], glycyl tRNA synthase) | * Distal SMA with upper limb predominance ([[chromosome 7 (human)|chromosome 7]], glycyl tRNA synthase) | ||
* X-Linked infantile SMA (gene UBE1)<ref>[http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00015-8 AJHG - Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy<!-- Bot generated title -->]</ref><ref>[http://health.usnews.com/usnews/health/healthday/080110/years-long-search-unlocks-deadly-genetic-disease.htm Years-Long Search Unlocks Deadly Genetic Disease<!-- Bot generated title -->]</ref> | * X-Linked infantile SMA (gene UBE1)<ref>[http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)00015-8 AJHG - Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy<!-- Bot generated title -->]</ref><ref>[http://health.usnews.com/usnews/health/healthday/080110/years-long-search-unlocks-deadly-genetic-disease.htm Years-Long Search Unlocks Deadly Genetic Disease<!-- Bot generated title -->]</ref> | ||
Revision as of 16:55, 21 June 2011
The non-5q13 associated spinal muscular atrophies, are a heterogeneous group of motor neuron diseases associated with mutations in a variety of different known genes and others not yet defined (e.g. [[X linked, autosomal dominant, mutations in IGHMBP2 gene on chromosome 11q)other than the gene on chromosome 5. Patients with these disorders generally have some clinical characteristics that can help differentiate them from those with 5q13-associated or “proximal” SMA (5q13. All forms of SMA have in common weakness caused by denervation, that is, the muscle atrophies because it has lost the signal to contract due to loss of the innervating nerve. Spinal muscular atrophy only affects motor nerves. Heritable disorders that cause both weakness due to motor denervation along with sensory impairment due to sensory denervation are known by the inclusive label Charcot-Marie-Tooth or Hereditary Motor Sensory Neuropathy. The term spinal muscular atrophy thus refers to atrophy of muscles due to loss of motor neurons within the spinal cord.
- Hereditary Bulbo-Spinal SMA Kennedy's disease (X linked, Androgen receptor)
- Spinal Muscular Atrophy with Respiratory Distress (SMARD 1) (chromsome 11, IGHMBP2 gene)
- Distal SMA with upper limb predominance (chromosome 7, glycyl tRNA synthase)