It is defined as the congenital uncommon defect which affect muscles. Myopathies include several types but all types share some common features like low muscular power, lack of muscles tone, weakness etc.
Some general signs and symptoms of congenital myopathies include:
- Muscles cramps
- Delayed motor skills)
- Lack of muscle tone
- Facial weakness
- Muscles contractions
- Ptosis (drooping of eyelids)
The exact cause of congenital myopathies is unknown but mutation make error in DNA which causes genetic abnormalities in the development of certain organs and tissues.
Complications of congenital myopathies include:
- Feeding problems
- Respiratory problems
- Delayed motor skills
For diagnosis your doctor take family and medical history and might conduct a physical examination to check the power and tone of muscles and neurological response to muscles and might recommend the following tests:
- Muscles biopsy to check the exact stage and type of myopathies
- Blood test to check the enzyme creatine kinase level
- EMG electromyography to check the electrical activity of muscles
- Genetic testing to confirm the genetic mutation
Treatment options include:
- Medications help to reduce the signs and symptoms like albuterol.
- Nutritional support
- Genetic counselling to understand the disease
- Physical therapy
- Orthopedic therapy