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Distal Myopathies: Hereditary

Autosomal DominantAutosomal RecessiveMitochondrialMuscular Dystrophy
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Overview

From WUSTL Neuromuscular

DISTAL WEAKNESS Differential Dx General Features Pathology Myopathies ACTN2: 1q43 Congenital myopathies ACTA1 Centronuclear 2: DNM2; 19p13 RYR1 Cystinosis + Renal: CTNS; 17p13 Cytoplasmic body Distal dystrophy: PLIN4; 19p13 Emery-Dreifuss FSH dystrophy Glycogenoses Acid maltase Debranching Enzyme Phosphorylase b Kinase Gowers-Laing (MPD1): MYH7; 14q11 Hereditary IBM Dominant Recessive Respiratory failure LGMD variants 1A: Myotilin; 5q31 1C: Caveolin-3; 3p25 1D: DNAJB6; 7q36 2B: Dysferlin; 2p13 2G: Telethonin; 17q12 2L: ANO5; 11p14 Mitochondrial: POLG1; 15q26 Miyoshi (MMD) MMD1: Dysferlin; 2p13

External Resources

WUSTL Neuromuscular
Washington University Disease Center
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.