What are the two types of myotonic dystrophy?
The severity of the condition varies widely among affected people, even among members of the same family. There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1.
How common is myotonic dystrophy type 2?
There are few epidemiologic studies of DM2. 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.
What is the difference between DM1 and DM2 myotonic dystrophy?
Congenital DM1 is characterized by muscle weakness (hypotonia), difficulty breathing, intellectual disability and early death. DM type 2 (DM2) causes similar symptoms to DM1, but is generally a less severe disorder and does not cause congenital disease. DM1 is caused by an alteration in the DMPK gene.
Is DM2 inherited?
Myotonic dystrophy type 2 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is enough to cause symptoms of the condition. In most cases, an affected person has one affected parent.
What is a DM2?
DM2 is a multi-system disorder characterised by an inability to relax muscles once they have contracted or “myotonia” and muscle weakness. DM2 is generally a milder condition than DM1.
What DM2 means?
Early Diagnosis of Diabetes Mellitus Type 2 (DM2) (7348)
What causes DM2?
Type 2 diabetes is primarily the result of two interrelated problems: Cells in muscle, fat and the liver become resistant to insulin. Because these cells don’t interact in a normal way with insulin, they don’t take in enough sugar. The pancreas is unable to produce enough insulin to manage blood sugar levels.
How is the family of a person with myotonic dystrophy affected?
Men and women are equally likely to pass on Myotonic Dystrophy to their children. Myotonic Dystrophy is a genetic disease and so can be inherited by the child of an affected parent if they receive the mutation in the DNA from the parent. The disease can be passed on and inherited equally by both sexes.
Is DM2 hereditary?
Both DM1 and DM2 are inherited in an autosomal dominant pattern, meaning it takes only one flawed allele, one copy carrying the abnormal expansion, to cause symptoms of the disease. If one parent has the disorder, every child of that person has a 50% chance of inheriting the gene flaw that causes it.
What is myotonic dystrophy type 2 (DM2)?
Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities.
What is the average age of onset for myotonic dystrophy?
While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. Myotonic dystrophy is caused by a genetic mutation in one of two genes. Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). Mutation of CNBP gene causes type 2 (DM2).
Which genes are affected by myotonic dystrophy?
In DM1, the affected gene is called DMPK, which codes for myotonic dystrophy protein kinase, a protein expressed predominantly in skeletal muscle.
What are the treatment options for myotonic dystrophy?
Myotonic dystrophy. Treatments may include braces or wheelchairs, pacemakers and non-invasive positive pressure ventilation. The medications mexiletine or carbamazepine are occasionally helpful. Pain, if it occurs, may be treated with tricyclic antidepressants and nonsteroidal anti-inflammatory drugs (NSAIDs).