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Diseases » Myotonic Dystrophy » Summary

What is Myotonic Dystrophy?

What is Myotonic Dystrophy?

  • Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
  • Myotonic Dystrophy: An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)
    Source - Diseases Database
  • Myotonic Dystrophy: a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant.
    Source - WordNet 2.1

Myotonic Dystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Myotonic Dystrophy, or a subtype of Myotonic Dystrophy, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Myotonic Dystrophy as a "rare disease".
Source - Orphanet

Myotonic Dystrophy: Introduction

Types of Myotonic Dystrophy:

Broader types of Myotonic Dystrophy:

How many people get Myotonic Dystrophy?

Prevalance of Myotonic Dystrophy: Type I myotonic dystrophy accounts for 98% of all cases of myotonic dystrophy, Genetics Home Reference website

Who gets Myotonic Dystrophy?

Gender Ratio for Myotonic Dystrophy: male predominance

How serious is Myotonic Dystrophy?

Prognosis of Myotonic Dystrophy: non-progressive condition which may improve with age
Complications of Myotonic Dystrophy: see complications of Myotonic Dystrophy

What causes Myotonic Dystrophy?

Causes of Myotonic Dystrophy: see causes of Myotonic Dystrophy

What are the symptoms of Myotonic Dystrophy?

Symptoms of Myotonic Dystrophy: see symptoms of Myotonic Dystrophy

Complications of Myotonic Dystrophy: see complications of Myotonic Dystrophy

Onset of Myotonic Dystrophy: usually 2nd or 3rd decade

Can anyone else get Myotonic Dystrophy?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
More information: see contagiousness of Myotonic Dystrophy
Inheritance: see inheritance of Myotonic Dystrophy

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

How is it treated?

Treatments for Myotonic Dystrophy: see treatments for Myotonic Dystrophy
Research for Myotonic Dystrophy: see research for Myotonic Dystrophy

Organs Affected by Myotonic Dystrophy:

Organs and body systems related to Myotonic Dystrophy include:

Name and Aliases of Myotonic Dystrophy

Main name of condition: Myotonic Dystrophy

Class of Condition for Myotonic Dystrophy: genetic repeating triplet, genetic

Other names or spellings for Myotonic Dystrophy:

Myotonia Congenita, Thomsen Disease, Parmyotonia Congenita, dystrophia myotonica, myotonia atrophica, myotonia dystrophica, myotonia congenital, dominant

Thomsen's disease, Myotonia congenita, Curschmann-Batten-Steinert syndrome, Dystrophia myotonica, Steinert's myotonia atrophica Source - Diseases Database

Myotonic muscular dystrophy, Myotonia atrophica, Steinert's disease
Source - WordNet 2.1

Myotonia congenita, autosomal dominant, THD, Thomsen disease, Congenital myopathy, Batten Turner congenital myopathy, Becker disease, Congenital myopathy, Batten Turner congenital myopathy, Becker disease, Myotonia congenita, Myotonia congenita, autosomal dominant, THD, Steinert disease, Steinert myotonic dystrophy, Dystrophia myotonica 1, DM, DM 1, Dystrophia myotonica
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Myotonic Dystrophy: Related Conditions

Research the causes of these diseases that are similar to, or related to, Myotonic Dystrophy:


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