Congenital Myopathies

Overview

Many advances have been made in the last decade in understanding congenital muscle diseases (myopathies) and identifying genetic defects that cause them. Patients with some disease forms previously considered untreatable and fatal now can grow up to lead fairly normal, active lives.

Mayo Clinic doctors and researchers have played leading roles in this progress and continue to work at the forefront of treatment and research on these diseases. Though congenital myopathies are extremely rare, many patients are referred to Mayo Clinic for evaluation because of Mayo's expertise in diagnosing and treating these disorders.

Adults and children treated for congenital myopathies at Mayo Clinic benefit from a collaborative approach to care in which specialists from neuromuscular diseases, genetics, cardiology, pulmonology, orthopedics, physical therapy, ophthalmology and other specialties work together to find the best solution for each patient.

Diagnosis

Doctors start with a patient's personal and family history, followed by thorough physical and neurologic evaluations to rule out other diseases that can affect muscle function, such as muscular dystrophies and neurological disorders. Doctors will also run a series of specialized tests to better understand the nature of the myopathy, and, if possible, to identify the underlying genetic mutation. Read more about congenital myopathies diagnosis.

Treatment Options

Treatment is aimed at relieving symptoms and trying to give the patient the best quality of life possible. Some patients will require intensive hospital care, including respiratory support, at least for a time. Other patients may only need to make lifestyle modifications or work with a physical therapist. Yet others may need orthopedic surgery or bracing. Read more about congenital myopathies treatment options.

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About Congenital Myopathies

Congenital myopathies are muscle diseases that are usually present at birth, although some may not cause problems until later in life. The diseases primarily cause problems with tone and contraction of the skeletal muscles that control voluntary movements. The problems are caused by genetic defects that interfere with the muscle cells' ability to communicate with nerve cells.

Depending on the form of myopathy, the inheritance pattern can be:

• X-linked, meaning the defective gene is located on the X chromosome, making males more susceptible (whereas in females, the other X chromosome can compensate for the defective one)
• Autosomal (caused by a chromosome other than the X or Y) recessive, meaning a defective gene from each parent is required to cause the disease
• Autosomal dominant, meaning a defective gene from only one parent is required to cause the disease

New mutations can also occur at conception (spontaneous mutations).