The 6 Main Symptoms of Congenital Myopathies!
Other signs and symptoms of some Congenital Myopathies include feeding and breathing difficulties , as well as skeletal conditions such as curvature of the spine (scoliosis), weak bones (osteopenia), or hip problems.
Signs and symptoms of Congenital Myopathies may not be visible until later in infancy or childhood. There are no known cures for Congenital Myopathies . Supportive treatments include physical, occupational and speech therapies, nutritional support and assisted breathing if needed. Genetic counseling can help assess the risk of Congenital Myopathies in future pregnancies.
Types of Congenital Myopathies: Types of Congenital Myopathies include:
- Central core disease. This condition causes muscle weakness and developmental problems. Some people may develop a significant reaction to general anesthesia (malignant hyperthermia).
- Centronuclear myopathies. These rare conditions cause muscle weakness in the face, arms, legs and eye muscles and breathing problems.
- Congenital fiber type disproportionate myopathy. Small fibers are found in muscle tissue during the biopsy. This condition causes muscle weakness in the face, neck, arms, legs, and trunk.
- Nemaline Myopathy. Nemaline myopathy is one of the most common Congenital Myopathies and causes muscle weakness in the face, neck, arms, and legs, and sometimes scoliosis. It can also cause breathing and eating problems.
- Multiminichora disease. This condition has several subtypes and often causes severe muscle weakness in the arms and legs and scoliosis.
- Myotubular myopathy. This rare condition, which occurs only in males, causes muscle weakness, flexibility and breathing problems.
- Other myopathies. Other rare myopathies include autophagic vacuolar myopathy, cap disease, congenital myopathy with arrest of myogenesis, myosin storage myopathy (hyaline body), and zebra body myopathy.
Causes of Congenital Myopathies: Congenital Myopathies are caused by one or more genetic abnormalities in genes that control muscle development. So, check now The 6 Main Symptoms of Congenital Myopathies:
Symptoms of Congenital Myopathies: Signs and symptoms vary depending on the type of congenital myopathy. The severity of signs and symptoms also varies, although conditions are usually stable or slowly progressing. Common signs and symptoms include:
- Lack of muscle tone
- Muscle weakness
- delayed motor skills
- Visible facial weakness
- drooping eyelids
- Muscle cramps or contractions
Treatments for Congenital Myopathies: Congenital Myopathies can not be cured, but doctors can help you manage the condition and symptoms. Treatment may include several options.
- Genetic counseling. Genetic counselors can help you understand the genetics of the condition.
- Medicines. Medications can help treat the symptoms of some myopathies. For example, the drug albuterol (Proair HFA, Ventolin HFA, others) reduces muscle weakness in central core disease and may be helpful in other Congenital Myopathies .
- Nutritional and respiratory support. Nutritional or respiratory support may be needed as the condition progresses.
- Orthopedic treatments. Orthopedic support devices or other treatments, such as surgery to correct or improve scoliosis, may be helpful.
- Physical, occupational or speech therapy. Physical, occupational, or speech therapy can help manage symptoms. Due to advances in supportive care, more people with Congenital Myopathies live into adulthood and beyond.