Myofibrillar myopathies: General

Muscular Dystrophy

musdist/lg.html#Myofibrillar myopathies: General 114

Overview

From WUSTL Neuromuscular

Clinical features Onset age: Adult; 20 to 57 years Weakness Patterns: Distal predominant > Proximal > Distal + Proximal Legs > Arms Dysphagia: 30% May present with: Respiratory failure Myalgia/Cramps: 50% Cardiomyopathy (50%) Specific associations Desmin: Most common; More Cardiac & Respiratory; More disability; No neuropathy Cataract: αB-crystallin; Myotilin; LBD3 Higher CK: Myotilin; Desmin Laboratory features EMG Myopathy Irritability: Fibrillations; Positive sharp waves Myotonia Complex repetitive discharges Serum CK: Normal, or Elevated < 5x Pathological & Molecular features Initial: Cent

Related Conditions

Shared genes

Distal hereditary motor neuropathy I (HMND1; Distal HMN I)

IFAP

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.