Myosinopathy: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Myosinopathy: clinical features. Onset age is usually in adulthood. It can however present from birth to childhood. Fully referenced neurology checklist.
Onset features
- Onset age is usually in adulthood
- It can however present from birth to childhood
Weakness: frequent patterns
Locked: subscribe to see this section.
Weakness: less frequent patterns
Locked: subscribe to see this section.
Cardiac features
Locked: subscribe to see this section.
Skeletal features
Locked: subscribe to see this section.
Congenital features
Locked: subscribe to see this section.
Other features
Locked: subscribe to see this section.
Differential diagnosis
Locked: subscribe to see this section.
References
- Fiorillo C, Astrea G, Savarese M, et al. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis 2016; 11:91.
- Lamont PJ, Wallefeld W, Hilton-Jones D, et al. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 2014; 35:868-879.
- Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E. Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene. Gene 2019; 697:159-164.
