Hereditary Neuropathies (CMT 1H or D-HMN) ± Macular Degeneration & Hyperelastic Skin (HNARMD)
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(CMT 1H or D-HMN) ± Macular Degenera
Overview
From WUSTL Neuromuscular● Epidemiology: 23 families Genetics Mutations CMT 1H syndrome: Missense; Gly90Ser, Val126Met, Asp329Val, Arg331His, Arg373Cys (C-terminus) D-HMN: T48I; G90S; V126M; G267S Penetrance: Incomplete Allelic with Cutis laxa, Dominant 2 , Recessive IA Macular degeneration, Age-related 3 FBLN5 protein Location: Extracellular matrix Functions Role in elastic fiber assembly Endothelial cell adhesion Syndromes CMT 1 (Demyelinating; Dominant) Clinical Onset Age: 3rd to 6th decade; Earlier than D-HMN syndromes Neuropathy Weakness (80%): Distal; Legs & Arms Carpal tunnel syndrome symptoms Sensory loss: Dis
OMIM Entries
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.