Scapuloperoneal Muscular Dystrophy
(Scapuloperoneal Myopathy)
This is a very rare condition that affects mainly the muscles of the shoulders and the lower leg (fibula). It is inherited either autosomally or X- linked in a dominant pattern, so boys and girls are also affected. But there is a case of de novo mutation. The progression is usually slow, but in rare cases serious events have been reported.
Symptoms
They start during childhood or adulthood. Muscular stiffness, muscle contractures, muscle cramps, muscle shrinkage and destruction of shoulder and fibula areas are present. Symptoms usually start from shoulders, followed by fibulas, but the opposite may happen. On rare occasions facial muscles can also be damaged. As a complication, the muscles of the respiratory system may also become difficult to breathe.
Diagnosis
- Personal and family history.
- Clinical examination.
- Genetic test.
- Blood tests to determine pathological values of CK enzymes, lactate dehydrogenase etc.
Management
There is no cure and treatment is based on symptomatology. It is recommended to take corticosteroids for the treatment of muscular symptoms and vitamins for the treatment of side effects from corticoids. In addition physiotherapy and a program of specific exercises are necessary. Corrective surgery as well as spirometric exercises are rarely required, for strengthening the affected respiratory muscles and improving respiratory movements.
Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/condition/350/muscular-dystrophy/ and https://clinicaltrials.gov/ct2/home
References
- NORD (National Organization for Rare Disorders), Rare diseases, Myopathy scapuloperoneal, https://rarediseases.org/rare-diseases/myopathy-scapuloperoneal/
- Scapuloperoneal Myopathy, DoveMed, http://www.dovemed.com/diseases-conditions/scapuloperoneal-myopathy/