How do you test for myotonic dystrophy?

The definitive test for myotonic dystrophy is a genetic test. For this test, a blood or saliva sample is analyzed to determine if there is a mutation in the DMPK or CNBP (ZNF9) genes .

How is myotonic dystrophy type 1 diagnosed?

Diagnosis/testing. The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK. CTG repeat length exceeding 34 repeats is abnormal. Molecular genetic testing detects pathogenic variants in nearly 100% of affected individuals.

Can myotonic dystrophy be misdiagnosed?

The most common misdiagnosis was limb-girdle muscular dystrophy, but others included chronic fatigue, fibromyalgia, arthritis, and multiple sclerosis. DM2 members also underwent significantly more testing than DM1 members, having more EMGs, muscle biopsies and genetic testing.

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

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.

Are there prenatal tests for myotonic dystrophy?

Families can opt for prenatal testing, where the DNA of the fetus is checked for the presence of the myotonic dystrophy mutation. Mothers living with DM1 can have special monitoring during pregnancy and prepare for risks involved for a child born with congenital DM.

How is myotonic dystrophy type 2 diagnosed?

Myotonic dystrophy is diagnosed by doing a physical exam. A physical exam can identify the typical pattern of muscle wasting and weakness and the presence of myotonia. A person with myotonic dystrophy may have a characteristic facial appearance of wasting and weakness of the jaw and neck muscles.

Is CK elevated in myotonic dystrophy?

Individuals with DM may have mildly or moderately elevated levels of a muscle enzyme called creatine kinase or CK in their blood serum. Some individuals have low levels of immunoglobulin G.

How fast does myotonic dystrophy progress?

Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life.

What is the difference between myotonic and muscular dystrophy?

Muscular dystrophy (MD) refers to a group of nine genetic diseases that cause progressive weakness and degeneration of muscles used during voluntary movement. Myotonic dystrophy (DM) is one of the muscular dystrophies. It is the most common form seen in adults and is suspected to be among the most common forms overall.

Are you born with myotonic dystrophy?

Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert’s disease). Usually in myotonic dystrophy the symptoms begin to show in childhood or later in life, but symptoms of congenital myotonic dystrophy are evident from birth.

What is the difference between myotonic dystrophy and muscular dystrophy?

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.