Myofibrillar Myopathies is a term used to describe a group of rare genetic neuromuscular disorders that may be diagnosed in childhood. Symptoms of the disease however appear after the age of 40. Typical characteristic of the disease is slowly progressive muscle weakness. Symptoms are:
• Muscle stiffness and weakness
• Stiffening of joints
• Muscle cramps
• Frequent falls+C46
• Facial weakness
• Difficulty swallowing and talking
HOW IS MYOFIBRILLAR MYOPATHIES DIAGNOSED?
Diagnosis is done by a general physician who would do Genetic testing, along with muscle biopsy and Electromyography in some cases.
HOW IS MYOFIBRILLAR MYOPATHIES TREATED?
The treatment of Myofibrillar Myopathies involves medication to cure the disease at the earliest.
DID YOU KNOW?
Genetic counselling is suggested as preventive measure for affected parents too. But there is a chance that people affected with this disease would not be able to attain full life expectancy.