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Metadata
ID DOID:0111064
Name distal spinal muscular atrophy 1
Definition A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
https://www.ncbi.nlm.nih.gov/pubmed/11528396, https://www.ncbi.nlm.nih.gov/pubmed/2801766
Xrefs

ICD10CM:G12.2

OMIM:604320

ORDO:98920

Synonyms

autosomal recessive distal spinal muscular atrophy 1 [EXACT]

autosomal recessive spinal muscular atrophy with respiratory distress [EXACT]

dHMN6 [EXACT]

diaphragmatic spinal muscular atrophy [EXACT]

distal hereditary motor neuropathy type 6 [EXACT]

distal-HMN type 6 [EXACT]

DSMA1 [EXACT]

severe infantile axonal neuropathy with respiratory failure type 1 [EXACT]

SIANRF [EXACT]

SMARD1 [EXACT]

spinal muscular atrophy with respiratory distress type 1 [EXACT]

Parent Relationships

is_a autosomal recessive distal hereditary motor neuronopathy

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