Typical nemaline myopathy

ORPHA: 171436

Contents

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

Overview

Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement

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 Typical nemaline myopathy, sourced from HPO and Orphanet clinical annotations.

High palateHyporeflexiaGait disturbanceNeonatal hypotoniaRespiratory insufficiencyLimb-girdle muscle weaknessAxial muscle weaknessIncreased variability in muscle fiber diameterNeck flexor weaknessType 1 muscle fiber predominanceFoot dorsiflexor weaknessFacial palsyFatigable weakness of distal limb musclesNarrow faceMicrognathiaShort neckPtosisPectus excavatumNarrow chestFacial diplegiaFlexion contracturePolyhydramniosHypokinesiaWaddling gaitScoliosisArthrogryposis multiplex congenitaHip dislocationGenu valgumNocturnal hypoventilationGenu varumMyopathyElevated circulating creatine kinase concentrationSpinal rigidityHyperlordosisNemaline bodiesFeeding difficultiesFatigable weakness of respiratory musclesFatiguable weakness of proximal limb musclesKyphosis

Classification & Codes

Orphanet Code

ORPHA:171436

Typical nemaline myopathy

Orphanet	`ORPHA:171436`
Treatments	0 drug(s)
Symptoms on record	39 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO