OrphanDrug
OrphanDrug
Pharma Knowledge Base

distal muscular dystrophy with anterior tibial onset

ORPHA: 178400

Contents

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

Overview

human disease

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 muscular dystrophy with anterior tibial onset, sourced from HPO and Orphanet clinical annotations.

Absent muscle fiber dysferlinAbnormal circulating creatine kinase concentrationExercise-induced myalgiaTibialis muscle weaknessProgressive proximal muscle weaknessLimb-girdle muscle weaknessAbsent Achilles reflexIntrinsic hand muscle atrophyWeakness of the intrinsic hand musclesFinger flexor weakness

Classification & Codes

Orphanet Code

ORPHA:178400
distal muscular dystrophy with anterior tibial onset
OrphanetORPHA:178400
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO