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bn:01617536n
Noun Concept
SYL
No term available
EN
Distal spinal muscular atrophy type 1, also known as spinal muscular atrophy with respiratory distress type 1, is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles. Wikipedia
Relations
Sources
IS A
EN
rare disease
EN
Werdnig-Hoffman disease
EN
Distal hereditary motor neuronopathies
EN
autosomal recessive disease
GENETIC ASSOCIATION
EN
IGHMBP2
HEALTH SPECIALTY
EN
neurology

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