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nemaline myopathy 5

MeSH: C538397ORPHA: 98902

Contents

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

Overview

nemaline myopathy that has material basis in homozygous mutation in the TNNT1 gene on chromosome 19q13

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 nemaline myopathy 5, sourced from HPO and Orphanet clinical annotations.

Pectus carinatumMotor delayNeonatal hypotoniaTremorShoulder flexion contractureHip contractureProgressive muscle weaknessEMG: myopathic abnormalitiesType 1 muscle fiber predominanceProximal amyotrophyRespiratory insufficiency due to muscle weakness

Classification & Codes

MeSH Code

C538397

Orphanet Code

ORPHA:98902
nemaline myopathy 5
MeSHC538397
OrphanetORPHA:98902
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO