intermediate nemaline myopathy

ORPHA: 171433

Contents

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

Overview

Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression

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

Generalized muscle weaknessNemaline bodiesSevere muscular hypotoniaAbnormal thorax morphologyHyporeflexiaMotor delayGait disturbanceFlexion contractureDecreased fetal movementPolyhydramniosDysphagiaMyopathic faciesHypokinesiaRespiratory failureSkeletal muscle atrophyEMG: myopathic abnormalitiesType 1 muscle fiber predominanceMultiple prenatal fracturesFacial palsyHypertelorismLong philtrumLow-set earsOphthalmoplegiaAreflexiaFacial diplegiaPremature birthHigh, narrow palateArthrogryposis multiplex congenita

Classification & Codes

Orphanet Code

ORPHA:171433

intermediate nemaline myopathy

Orphanet	`ORPHA:171433`
Treatments	0 drug(s)
Symptoms on record	28 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO