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distal myopathy 1

ORPHA: 59135

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

distal muscular dystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the MYH7 gene on chromosome 14q11

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with distal myopathy 1, sourced from HPO and Orphanet clinical annotations.

Foot dorsiflexor weaknessToe extensor amyotrophyHigh palateNeck muscle weaknessGait disturbanceAbnormal calf musculature morphologyDistal muscle weaknessScoliosisProgressive muscle weaknessMyalgiaMinicore myopathyType 1 muscle fiber predominanceTalipes cavus equinovarusMildly elevated creatine kinaseAbnormal mitochondria in muscle tissueWeakness of orbicularis oculi muscleDilated cardiomyopathyEMG: myopathic abnormalitiesProximal lower limb muscle weakness

Classification & Codes

Orphanet Code

ORPHA:59135
distal myopathy 1
OrphanetORPHA:59135
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO