What is the difference between myotonic dystrophy type 1 and type 2?

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.

What is the phenotype of myotonic dystrophy?

It is characterized by a distinctive combination of muscular symptoms, such as facial weakness, ptosis, grip myotonia, and distal muscle weakness with muscular atrophy. The classic phenotype is typically accompanied by extramuscular symptoms like cognitive impairment, cataracts, and diabetes mellitus.

Can you carry myotonic dystrophy?

The disease can be passed on and inherited equally by both sexes. Congenital Myotonic Dystrophy, the most severe form of the disease is almost exclusively passed on by maternal transmission.

How do you treat myotonic dystrophy?

There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms of the disease. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain.

What triggers myotonic dystrophy?

Myotonic dystrophy is caused by mutations (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of myotonic dystrophy. The disease is inherited in an autosomal dominant manner.

Who is more likely to get myotonic dystrophy?

DM is the most common muscular dystrophy among adults of European ancestry. The prevalence of DM is about 10 cases per 100,000 individuals. Among nonwhite populations, DM1 is uncommon or rare.

How is myotonic dystrophy type 1 ( MD1 ) inherited?

MD1 is inherited in an autosomal dominant pattern, which means one copy of the mutated gene in each cell is sufficient to cause the disorder. In most cases, the person with MD1 has a parent who also has the disorder. The children of a person with MD1 have a 50% chance of inheriting the disorder.

When do signs and symptoms of myotonic dystrophy begin?

Listen Signs and symptoms of myotonic dystrophy often begin in a person’s 20s or 30s but can begin at any age. Myotonic dystrophy is caused by mutations (changes) in either the DMPK gene (in type 1) or the CNBP (ZNF9) gene (in type 2). Myotonic dystrophy (DM) is inherited in an autosomal dominant pattern.

What is the prognosis for myotonic dystrophy type 2?

Definitive information about prognosis in people with myotonic dystrophy type 2 is limited, but the condition generally runs a milder course. People with myotonic dystrophy type 2 may have a normal lifespan. While mobility may be impaired at an early age, the ability to walk is often retained until around 60-years-old.

How are myotonic dystrophy and cataract related?

Both disorders have autosomal dominant inheritance and multisystem features, including myotonic myopathy, cataract, and cardiac conduction disease. Studies suggest that the shared clinical features of DM1 and DM2 involve a novel genetic mechanism in which repetitive RNA exerts a toxic effect.