Scapuloperoneal myopathy is a rare genetic disorder characterized by weakness and wasting of certain muscles. Symptoms are usually limited to the shoulder blade area (scapula) and the smaller of the two leg muscle groups below the knee (peroneal). Facial muscles may be affected in a few cases. The leg symptoms often appear before the shoulder muscles become weakened. The rate of progression of the disorder varies from case to case. This condition can also occur in combination with other disorders. Scapuloperoneal myopathy is inherited as an autosomal dominant trait.
HOW IS SCAPULOPERONEAL MYOPATHY DIAGNOSED?
The diagnosis of Scapuloperoneal Myopathy may involve eliminating other disorders with similar symptoms, such as facioscapulohumeral dystrophy. The following information may be required to arrive at an accurate diagnosis:
A detailed personal and family medical history
Complete physical exam
Blood tests to detect abnormal levels of proteins, such as pyruvate kinase, creatine kinase, and lactic dehydrogenase (LDH)
Genetic testing to determine the mutation in the defective gene
HOW IS SCAPULOPERONEAL MYOPATHY TREATED?
The treatment measures for Scapuloperoneal Myopathy are geared toward managing the symptoms and decreasing the rate of progression. The following may be prescribed for effective management of symptoms to offer relief to the patients:
Corticosteroids: These have been shown to be effective medications to relieve discomfort. Further damage is generally delayed in patients and muscle strength may improve
Supplemental vitamins may be recommended to offset the side effects of the corticosteroids.
Therapeutic exercise regimen and physiotherapy
In some cases, a surgery may be required to treat the condition
Spirometry exercises: If the breathing muscles are severely damaged, a spirometer has been shown to help breathing in some cases (since it is not possible to strengthen these muscles)
DID YOU KNOW?
Being a genetic disorder, people who are planning to start a family should opt for genetic counselling prior to childbirth.