It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms usually develop during a person’s twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved.

What are the symptoms of myotonic dystrophy type 2?

It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms usually develop during a person’s twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved.

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.

What is the life expectancy of someone with myotonic dystrophy?

The median survival was 60 years for males and 59 years for females. Survival of the patients was also estimated from the age of 15 years to the ages of 25, 45 and 65 years and compared with the expected survival of age- and sex-matched birth cohorts from the normal Dutch population.

How is myotonic dystrophy 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.

Which one of the following symptoms is most characteristic of someone who presents with myotonic dystrophy?

The most common symptoms are muscle weakness and pain, myotonia, and cataracts. However, some people will not develop these symptoms. Sometimes, the severity of these symptoms change in a person.

How does myotonic dystrophy affect the eyes?

The eye is badly affected by myotonic dystrophy and the symptoms can include: droopy eyelids, weakness in the eye muscles, weepy eyes, low eye pressure, and damage to the retina at the back of the eye.

Is myotonic dystrophy a terminal illness?

In the most severe cases, respiratory and cardiac complications can be life-threatening even at an early age. In general, the younger an individual is when symptoms first appear, the more severe symptoms are likely to be. However, prognosis is as variable as the symptoms of this disease.

What triggers myotonic dystrophy?

Myotonic dystrophy is caused by genetic changes (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.

Can myotonic dystrophy cause bowel problems?

Reports have shown that up to a quarter of adults with Myotonic Dystrophy consider their bowel problems to be the most disabling of the symptoms associated with their condition.

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 is the difference between muscular dystrophy and myotonic 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.

What are 3 types of muscular dystrophy?

Types of Muscular Dystrophy

• Duchenne Muscular Dystrophy.
• Becker Muscular Dystrophy.
• Congenital Muscular Dystrophy.
• Myotonic Muscular Dystrophy.
• Limb-Girdle Muscular Dystrophy.
• Facioscapulohumeral Muscular Dystrophy.
• Emery–Dreifuss Muscular Dystrophy.
• Distal Muscular Dystrophy.

What are the symptoms of myopathy?

What are the symptoms of myopathy?

• Muscle weakness, most commonly of your upper arms and shoulders and thighs (more common and more severe).
• Muscle cramps, stiffness and spasms.
• Fatigue with exertion.
• Lack of energy.

Is myotonic dystrophy painful?

Muscle pain Myotonic dystrophy can be associated with pain. In some cases the pain originates inside the muscles. In other cases, the pain originates in the joints, ligaments, or spine. Muscle weakness may predispose individuals to arthritic changes or strain in these areas.

What organs are affected by muscular dystrophy?

Many individuals eventually lose the ability to walk. Some types of MD also affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs. Respiratory and cardiac diseases may occur, and some people may develop a swallowing disorder.

What are two disorders that cause myopathy?

The four main types of chronic, or long-term, inflammatory myopathies are:

• polymyositis.
• dermatomyositis.
• inclusion body myositis.
• necrotizing autoimmune myopathy.