Users' questions

How did myotonic dystrophy get its name?

How did myotonic dystrophy get its name?

Myotonic dystrophy often is abbreviated as “DM” in reference to its Greek name, dystrophia myotonica. Another name used occasionally for this disorder is Steinert disease, after the German doctor who originally described the disorder in 1909.

What is the meaning of myotonic?

Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up.

What is mean by myotonic dystrophy?

Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness.

What other names are there for myotonic dystrophy?

Dystrophia myotonica – a Latin name used by many doctors; often abbreviated as DM. The different types of DM are typically referred to as DM1 or DM2. DM1 is also known as Steinert’s Disease, named for the German doctor who first identified this disorder in 1909. DM2 is also known as Proximal myotonic myopathy or PROMM.

Does myotonic dystrophy shorten life?

Myotonic dystrophy is a progressive disease, meaning that symptoms worsen as a person gets older. Although evidence is limited, life expectancy appears to be reduced for people with myotonic dystrophy type 1 (DM1).

Can myotonia be cured?

No treatments currently exist that slow the progression of myotonic dystrophy, but symptomatic treatments are available. Managing the symptoms of this disease can reduce suffering and improve quality of life for patients.

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 triggers myotonic dystrophy?

Myotonic dystrophy is caused by mutations (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.

What do you need to know about myotonic dystrophy?

Myotonic dystrophy (DM) is a form of muscular dystrophy that affects muscles and many other organs in the body. The word myotonic is the adjective for the word myotonia, an inability to relax muscles at will. The term muscular dystrophy means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue.

Is the myotonic dystrophy gene inherited or inherited?

Myotonic dystrophy (DM) is an inherited disease. A severe form of DM, congenital myotonic dystrophy, may appear in newborns of mothers who have DM. Congenital myotonic dystrophy can also be inherited via the paternal gene, although it is said to be relatively rare. Congenital means that the condition is present from birth.

Which is the correct name for muscular dystrophy?

The term “muscular dystrophy” means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue. Myotonic dystrophy often is abbreviated as “DM” in reference to its Greek name, dystrophia myotonica. Another name used occasionally for this disorder is Steinert disease,…

Where does DMPK expression occur in myotonic dystrophy?

Decreased DMPK expression in extraocular muscles, ciliary body, and cellular layers of the retina can account for the symptoms seen in myotonic Dystrophy. Interestingly, very little to no DMPK expression is seen in lens epithelium.