How is myotonic dystrophy type 1 diagnosed?

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 EMG diagnose myotonic dystrophy?

EMG findings are a key element in the diagnosis of myotonic disorders. Myotonic potentials are one of the most specific potentials seen on needle EMG test. Myotonia is often easier to detect on EMG test than on neurological examination.

What is delayed muscle relaxation?

Myotonia is an abnormal delay in the relaxation of muscles after contraction. It is a key symptom in a number of muscle diseases called myotonic disorders. It can be mild or severe, interfering with daily activities such as walking, climbing stairs or opening and closing the eyelids.

What are the symptoms of myotonic muscular dystrophy?

Myotonic Dystrophy (DM)

• Effects on the brain.
• Breathing and swallowing muscle weakness.
• Cataracts.
• Head, neck, and face muscle weakness.
• Heart difficulties.
• Insulin resistance.
• Effects on internal organs.
• Limb and hand muscle weakness.

What is the life expectancy of someone with myotonic dystrophy?

Survival for 180 patients (from the register) with adult-onset type myotonic dystrophy was established by the Kaplan-Meier method. The median survival was 60 years for males and 59 years for females.

What part of the body does myotonic dystrophy affect?

Myotonic muscular dystrophy is a common multi-system disorder that affects the skeletal muscles (the muscles that move the limbs and trunk) as well as smooth muscles (the muscles that control the digestive system) and cardiac muscles of the heart.

What does myotonia feel like?

The main symptom of myotonia congenita is stiff muscles. When you try to move after being inactive, your muscles spasm and become rigid. Your leg muscles are most likely to be affected, but the muscles of your face, hands, and other parts of your body can also get stiff. Some people have only mild stiffness.

Is myotonia curable?

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 is the life expectancy for someone with myotonic dystrophy?

What kind of medical assistance is needed for myotonic dystrophy?

Canes, braces, walkers, and scooters can help as muscle weakness progresses. There are also medications that can lessen pain associated with myotonic dystrophy. Pain management can be achieved through the use of medications prescribed by a doctor.

What is end stage myotonic dystrophy?

Listen. Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness.

Is myotonic dystrophy a disability?

The official name of the Blue Book is Disability Evaluation Under Social Security. SSA doesn’t include myotonic dystrophy on the list of chronic illnesses or impairments provided in its Blue Book.

What is the prognosis for people with myotonic dystrophy?

The outlook (prognosis) for each person with myotonic dystrophy may vary and depend on the particular type of myotonic dystrophy. It is a progressive disease and the symptoms worsen as a person gets older. Life expectancy is reduced for people with myotonic dystrophy type 1 (DM1).

What are early symptoms of myotonic dystrophy?

Some of the main signs and symptoms of Myotonic Dystrophy are: Gradually progressive muscular weakness. Slow atrophy, particularly of the neck and facial regions. Early baldness. Formation of cataracts (cloudy vision) Gonadal atrophy.

How can myotonic dystrophy affect your health?

How Myotonic Dystrophy can affect your health Muscle Weakness. Weakness is very variable and may range from mild to severe. Myotonia. Heart problems. Chest and Breathing problems. Tiredness and excessive sleepiness. Digestive problems. Eye problems. Problems with thinking and planning. Speech and Jaw Problems. Other Problems Include.

Does myotonic dystrophy cause hair loss as well?

A medical condition characterized by high blood glucose, insulin resistance is commonly associated with both types of myotonic muscular dystrophy. Men are more likely than women to experience early baldness, but women who have DM 1 or DM 2 can have hair loss as well.

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