Distal SMA: Upper limb predominance (HMND13; HMN 5C)
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Overview
From WUSTL Neuromuscular● Nosology: Also called HMN 5A Epidemiology European families Most common D-HMN Genetics Mutations Missense Exon 3 Common: Asn88Ser; Ser90Leu Located at N-glycosylation site Mutation effects Alters N-glycosylation site Aggregate formation BSCL2 allelic disorders Seipin protein Integral membrane protein: Endoplasmic reticulum Glycosylated Lipid droplets: Synthesis & ER contacts Clinical Onset Age: Mean 15 to 24 years; Range 2 to 40 years; Childhood often Weakness: Hands Weakness Hands Early involvement Thenar eminence > 1st Dorsal Interosseous Asymmetric Lower extremities Peroneal weakness (60%
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.