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Congenital myopathies are muscle diseases present at birth (congenital) that result from genetic defects. There are many different types of congenital myopathies, but most share common features, including lack of muscle tone and weakness.
Congenital myopathies are rare. Please discuss with your doctor for further information.
The common symptoms of congenital myopathies are:
Types of congenital myopathies include:
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
Congenital myopathies are caused by one or more genetic abnormalities in genes that control muscle development.
There are many risk factors for congenital myopathies, such as:
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
To diagnose the condition, your doctor will review your medical and family history. He or she will conduct a physical and a neurological examination to find the cause of the muscle weakness and rule out other conditions. Your doctor may conduct several tests to diagnose congenital myopathy.
Prenatal diagnosis
If you have a known family history of congenital myopathies, you can opt for minimally invasive prenatal testing. Chorionic villus sampling can be done after 11 weeks of pregnancy. Amniocentesis can be done after 15 weeks, and cordocentesis can be done shortly after that.
The risk of pregnancy loss associated with these tests is less than 1 percent.
there is no cure for the congenital myopathies. The purpose of treatment, which is largely supportive, is to help patients optimize function and to manage any medical complications associated with the disorder. Treatment measures for the congenital myopathies greatly depend on the severity of the individual’s symptoms, and especially upon the degree of muscle weakness and presence of skeletal deformities. Treatment mainly consists of respiratory and feeding support, and orthopedic intervention. Ophthalmologic and dental care is also important to help manage problems that may arise such as dry eyes and dental crowding. In the case of X-linked MTM, management of associated complications including undescended testicles, spherocytosis, peliosis, elevated liver enzymes, and gallstones is also recommended.
Affected infants, especially those with X-linked myotubular myopathy or nemaline myopathy, usually require a feeding tube (a gastrostomy or G-tube) for nutrition and mechanical ventilation through a tracheostomy to help with breathing. Other means of ventilation such as BiPAP (bilevel positive airway pressure) may be used. Even children and adults who don’t require help with daytime breathing may require respiratory support at night, since respiratory failure during sleep can occur.
Braces or surgery may be necessary to treat scoliosis, dislocated hips, and foot deformities. Since individuals with central core disease can develop malignant hyperthermia during surgery, they should consult a neurologist or anesthesiologist prior to these or other surgeries.
The following lifestyles and home remedies might help you cope with congenital myopathies:
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
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Hello Health Group tidak menawarkan nasihat perubatan, diagnosis atau rawatan.
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