Familial spinal muscular atrophy

Familial spinal muscular atrophy --> infantile spinal muscular atrophy

transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised.

Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, werdnig-hoffmann disease, Werdnig-Hoffmann muscular atrophy.

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