✍ Scribed by Kelly, Thaddeus E.; Amoroso, Kathy; Ferre, Merry; Blanco, John; Allinson, Patricia; Prior, Thomas W.
No coin nor oath required. For personal study only.
A single report of brothers born to firstcousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and muscle biopsies were consistent with a form of spinal muscular atrophy. Molecular studies identified no abnormality of the SMN T gene on chromosome 5. This case serves to validate the suggestion of a distinct and rare form of spinal muscular atrophy while not excluding possible X-linked inheritance.
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