Orphanet: Intermediate nemaline myopathy

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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

Detailed information

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