Autosomal recessive distal spinal muscular atrophy 1
- Autosomal recessive distal spinal muscular atrophy 1
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| Autosomal recessive distal spinal muscular atrophy 1 |
| Classification and external resources |
| OMIM |
604320 |
Autosomal recessive distal spinal muscular atrophy 1 (or spinal muscular atrophy with respiratory distress type 1, or distal spinal muscular atrophy 1)[1] is a form of spinal muscular atrophy.
It is characterized by intrauterine growth retardation, often premature birth, foot deformity, and a characteristic pattern of breathing (the stomach draws inward with inspiration) that indicates weakness of the diaphragm; in classic SMA type 1 the diaphragm is strong and the stomach prominently protrudes with inspiration (paradoxic breathing pattern).
It is associated with IGHMBP2.[2][3]
References
| v · d · ePathology of the nervous system, primarily CNS (G04–G47, 323–349) |
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Brain/
encephalopathy |
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autoimmune ( Multiple sclerosis, Neuromyelitis optica, Schilder's disease) · hereditary ( Adrenoleukodystrophy, Alexander, Canavan, Krabbe, ML, PMD, VWM, MFC, CAMFAK syndrome) · Central pontine myelinolysis · Marchiafava-Bignami disease · Alpers' disease
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Episodic/
paroxysmal
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Other
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Spinal cord/
myelopathy |
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noco(m/d/e/h/v/s)/cong/tumr, sysi/epon, injr
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proc, drug(N1A/2AB/C/3/4/7A/B/C/D)
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2010.
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