What is Type 2 myotonic dystrophy?
What is Type 2 myotonic dystrophy?
Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness.
What is the difference between Type 1 and Type 2 myotonic dystrophy?
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 type 2 a disability?
If you have myotonic dystrophy (DM) and are unable to work due to a DM-related disability and/or other conditions, you may be entitled to Social Security Disability Insurance (SSDI) benefits or Supplemental Security Income (SSI) benefits available through the Social Security Administration (SSA).
How common is myotonic dystrophy type 2?
The exact prevalence of DM2 is not known. DM1 affects at least 1 in 8,000 people worldwide but the prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations.
How do you test for myotonic dystrophy type 2?
To absolutely confirm a diagnosis of DM1 or DM2, you’ll likely need genetic testing (also referred to as DNA testing). DNA, the genetic material in the nucleus of cells, is isolated from a sample of your blood or other tissue, and then analyzed to determine whether or not a specific mutation is present.
What is myotonia treatment?
Treatment for myotonia may include mexiletine, quinine, phenytoin, and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may help muscle function. Prognosis. Myotonia is a chronic disorder. Symptoms may improve later in life.
What is the life expectancy for myotonic dystrophy?
We found a median survival of 59–60 years for the adult-type myotonic dystrophy. Reardon et al. (1993) found a median survival of 35 years for the congenital type. Thus, patients with the adult-type of myotonic dystrophy have a considerably better prognosis than those with the congenital type.
How fast does myotonic dystrophy progress?
DM1 can develop at birth (congenital form), during childhood (juvenile form) and during adulthood (adult form). The adult form is the most common form and usually begins in a person’s 30s. Generally, the signs and symptoms of these disorders progress slowly. This is the most common form of myotonic dystrophy.
What are the treatment options for myotonic dystrophy?
Symptomatic treatments:
- Medications. Anti-diabetic drugs to normalize blood sugar levels and address mild diabetic symptoms.
- Rehabilitative therapy. Physiotherapy for muscle weakness, myotonia and contractors.
- Devices.
- Surgery.
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