congenital muscular dystrophy with cerebellar involvement
ORPHA: 370959
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 with cerebellar involvement, sourced from HPO and Orphanet clinical annotations.
Olivopontocerebellar hypoplasiaHypoplasia of the ponsElevated circulating creatine kinase concentrationMuscular dystrophyHypoglycosylation of alpha-dystroglycanReduced muscle fiber alpha dystroglycanMacroglossiaHydrocephalusMicrocephalyGlobal developmental delayAbnormal cerebellum morphologyCerebellar hypoplasiaDilated fourth ventricleGray matter heterotopiaAbnormal brainstem morphologyHypoplasia of the brainstemLumbar hyperlordosisProximal muscle weaknessCalf muscle pseudohypertrophySkeletal muscle hypertrophyDiffuse white matter abnormalitiesAbnormal pyramidal signType II lissencephalyAbnormal brain morphologyMegalocorneaStrabismusCataractAbnormality iris morphologyMyopiaColobomaOptic nerve hypoplasiaOptic atrophySeizureMild intellectual disabilityAgenesis of corpus callosumHyperreflexiaOccipital encephaloceleVentriculomegalyPolymicrogyriaClonusCerebellar cystFusion of the cerebellar hemispheresDecreased thalamic volumeRetinal detachmentMicrophthalmiaBlindnessCardiomyopathy
Classification & Codes
Orphanet Code
ORPHA:370959congenital muscular dystrophy with cerebellar involvement
| Orphanet | ORPHA:370959 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO