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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: DisorderSummary
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.
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2011, pdf)
- Anesthesia guidelines
- English (2022)
- Clinical practice guidelines
- English (2012)
- Guidance for genetic testing
- English (2012)
- Clinical genetics review
- English (2015)
Additional information