Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

ABSTRACT:

Objective

Spinal muscular atrophies (SMAs) are hereditary disorders characterized by weakness from degeneration of spinal motor neurons. Although most SMA cases with proximal weakness are recessively inherited, rare families with dominant inheritance have been reported. We aimed to clinically, pathologically, and genetically characterize a large North American family with an autosomal dominant proximal SMA.

Methods

Affected family members underwent clinical and electrophysiologic evaluation. Twenty family members were genotyped on high-density genome-wide SNP arrays and linkage analysis was performed.

Results

Ten affected individuals (ages 7-58 years) showed prominent quadriceps atrophy, moderate to severe weakness of quadriceps and hip abductors, and milder degrees o

SUBMITTER: Harms MB 

PROVIDER: S-EPMC2918478 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature