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Childhood-onset nemaline myopathy
Disease definition
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
ORPHA:171439
Classification level: DisorderSummary
Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births.
Clinical description
Childhood onset NM might represent 10-15% of total cases. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness.
Etiology
This form of NM is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes.
Genetic counseling
Transmission follows an autosomal dominant pattern.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Polski (2011, pdf)
Detailed information
General public
- Article for general public
- English (2014) - Socialstyrelsen
- Svenska (2017) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- English (2012) - J Child Neurol
- Anesthesia guidelines
- English (2022) - Orphananesthesia
Disease review articles
- Clinical genetics review
- English (2015) - GeneReviews
Genetic Testing
- Guidance for genetic testing
- English (2012) - Eur J Hum Genet
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information