Congenital Myopathies

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.

Symptoms

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)

Causes

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

Complications of congenital myopathies include:

Feeding problems
Respiratory problems
Pneumonia
Scoliosis
Delayed motor skills

Diagnosis

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

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

Congenital Myopathies