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Intermediate nemaline myopathy

Disease definition

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.

ORPHA:171433

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: G71.2
  • OMIM: 161800  256030  609284  615731
  • UMLS: -
  • MeSH: -
  • GARD: 12823
  • MedDRA: -

Summary

Epidemiology

The annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases.

Clinical description

Neonates with intermediate NM present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures.

Etiology

The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with intermediate NM.

Genetic counseling

The transmission pattern of the disease is autosomal recessive or dominant.

Expert reviewer(s):  Dr Monique RYAN - Last update: October 2011

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.