DIAGNOSIS
Your doctor will most likely begin by reviewing your medical history and doing a physical examination. Aside from those, he/she may request for the following testing procedures:
- Tests for enzymes. Damaged muscles release enzymes into the bloodstream, such as creatine kinase. Increased blood levels of CK in someone who hasn’t undergone a severe injury may indicate muscle illness.
- Genetic testing. Mutations in several genes that cause muscular dystrophy may be found in blood samples.
- Muscle biopsy. An incision or hollow needles could be used to remove a tiny amount of muscle. Muscular dystrophies could be distinguished from other muscle illnesses through tissue analysis.
- Tests to check your heartbeat. These tests monitor heart function in persons who have myotonic muscular dystrophy.
- Lung-monitoring tests. Lung function is assessed using these tests.
- Electromyography. The muscles to be evaluated are pierced using an electrode needle. As you rest and slowly tighten the muscle, electrical activity is detected.
TREATMENT
Although there is still no exact cure for facioscapulohumeral muscular dystrophy, medication for certain symptoms of the condition may help people stay active for a longer time and improve their heart and lung muscle strength. New therapeutics are also currently being tested.
Facioscapulohumeral muscular dystrophy patients should be watched for the rest of their lives. The treatment team includes a neurologist with knowledge in neuromuscular problems, a physical medicine and rehabilitation specialists, and physical therapists. Furthermore, the treatment team may change medicine as the illness advances based on ongoing examinations regarding walking, swallowing, breathing, and hand functions.
