severe congenital nemaline myopathy
ORPHA: 171430
Overview
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates
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 severe congenital nemaline myopathy, sourced from HPO and Orphanet clinical annotations.
Breech presentationDysphagiaRespiratory distressHypokinesiaRespiratory failureSkeletal muscle atrophyAxial muscle weaknessNemaline bodiesType 1 muscle fiber predominanceMultiple prenatal fracturesSevere muscular hypotoniaIncreased connective tissueFacial palsyHypospadiasMicropenisLarge fontanellesMicrognathiaLow-set earsPtosisOphthalmoplegiaAbnormality of the diaphragmThin ribsAdducted thumbGait disturbanceTremorFacial diplegiaPremature birthCardiomegalyDilated cardiomyopathyCardiac arrestAbnormal thorax morphologyMotor delayNeonatal hypotoniaFlexion contractureDecreased fetal movementPolyhydramniosTalipes equinovarusPulmonary hypoplasiaFallsScoliosisArthrogryposis multiplex congenitaEdema of the dorsum of handsFeeding difficulties in infancy
Classification & Codes
Orphanet Code
ORPHA:171430severe congenital nemaline myopathy
| Orphanet | ORPHA:171430 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO