What causes myotonic dystrophy Steinert disease?


What causes myotonic dystrophy Steinert disease?

Causes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The protein produced from the DMPK gene likely plays a role in communication within cells.

Is myotonic dystrophy life threatening?

Getting a Prognosis Often the disorder is mild and only minor muscle weakness or cataracts are seen late in life. At the opposite end of the spectrum, life-threatening neuromuscular, cardiac and pulmonary complications can occur in the most severe cases when children are born with the congenital form of the disorder.

Can myotonic dystrophy be cured?

There is currently no cure or specific treatment for myotonic dystrophy. Ankle supports and leg braces can help when muscle weakness gets worse. There are also medications that can lessen the myotonia. Other symptoms of myotonic dystrophy such as the heart problems, and eye problems (cataracts) can also be treated.

Can muscular dystrophy be healed?

There’s currently no cure for muscular dystrophy (MD), but a variety of treatments can help to manage the condition. As different types of MD can cause quite specific problems, the treatment you receive will be tailored to your needs.

What is Steinert disease?

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

What is Steinert’s myotonic dystrophy?

Steinert’s myotonic dystrophy or myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy. Individuals affected by this disease have an abnormality in the DMPK gene.

How is Steinert’s disease diagnosed?

The diagnosis of Steinert’s disease is made on the basis of family and individual medical history and clinical examinations, however, A genetic study is required for confirmation (Myotonic Dystrophy Foundation, 2016).

Is there a cure for Steinert’s disease?

There is still no cure for Steinert’s disease, nor have treatments identified that could slow or slow the progression of this disease pathology. However, there are some approaches towards symptomatic treatment (Muscular Dystrophy Canada, 2016): – Surgical procedures for the correction of ocular pathologies, such as cataracts.