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congenital muscular dystrophy without intellectual disability

ORPHA: 370980

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 congenital muscular dystrophy without intellectual disability, sourced from HPO and Orphanet clinical annotations.

Muscular dystrophyMotor delayCerebellar atrophyGait disturbanceGeneralized hypotoniaNeonatal hypotoniaFacial diplegiaAchilles tendon contractureFrequent fallsAbnormal cerebral white matter morphologyGeneralized muscle weaknessMyalgiaMuscle spasmEMG: myopathic abnormalitiesLimb-girdle muscle atrophyProximal amyotrophyMildly elevated creatine kinaseFatty replacement of skeletal muscleTip-toe gaitReduced muscle fiber alpha dystroglycanMicrocephalyCerebellar cystKyphoscoliosisPachygyriaVentriculomegalyGray matter heterotopia

Classification & Codes

Orphanet Code

ORPHA:370980
congenital muscular dystrophy without intellectual disability
OrphanetORPHA:370980
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
congenital muscular dystrophy without intellectual disability | OrphanDrug