FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A (FSHMD 1A)
DigenicDe NovoAutosomal DominantAutosomal RecessiveVariableMitochondrialMuscular DystrophyOMIM 606009
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Overview
From WUSTL Neuromuscular● ● 10qter Nosology Landouzy-Dejerine Syndrome: External link FSH: Epidemiology Frequency Prevalence: 1 per 8,500 to 15,000 3rd most common dystrophy after Duchenne & Myotonic Large family in Utah 7 Males more often symptomatic compared to Females More females with gene defect are asymptomatic Penetrance by age 30: 95% for Males; 69% for Females Males have: Earlier onset; More common foot extensor weakness Genetics: FSH dystrophy and 4q35 DNA Disease mechanisms: FSH FSHD1: DUX4 Digenic FSHD2: SMCHD1 FSHD3: LRIF1 FSHD4: DNMT3B FSHD 10qter General principles Genetics: FSH 4q35 locus Normal Mutat
OMIM Entries
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Shared genesExternal Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.