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Adult-onset nemaline myopathy
Disease definition
A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.
ORPHA:171442
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Adult
- ICD-10: G71.2
- OMIM: -
- UMLS: C0546123
- MeSH: -
- GARD: 12824
- MedDRA: -
Summary
Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total cases.
Clinical description
Adult onset NM occurs sporadically between 20 and 50 years of age. It presents with a generalized weakness, myalgia and rapid progression. Several cases have been associated with cardiomyopathy, dropped head syndrome and respiratory involvement. Muscle biopsy can reveal inflammatory changes. Monoclonal gammopathy and paresthesiae may be a marker of poor prognosis.
Etiology
This form of NM is due to mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes.
Genetic counseling
Adult onset NM is usually sporadic and no familial history of neuromuscular diseases is found.
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
- 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