distal muscular dystrophy 4
ORPHA: 63273
Overview
distal muscular dystrophy that has material basis in heterozygous mutation in FLNC on 7q32
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 4, sourced from HPO and Orphanet clinical annotations.
Finger flexor weaknessDistal lower limb muscle weaknessIntrinsic hand muscle atrophyDistal upper limb muscle weaknessFoot dorsiflexor weaknessLimited knee flexionHip flexor weaknessGait imbalanceWeakness of facial musculatureExercise-induced myalgiaHyporeflexia of lower limbsAbnormality of the cardiovascular systemInability to walkDifficulty runningFatiguable weakness of proximal limb musclesDecreased finger mobilityProximal lower limb muscle weaknessCardiomyopathyGait disturbance
Classification & Codes
Orphanet Code
ORPHA:63273distal muscular dystrophy 4
| Orphanet | ORPHA:63273 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO