What is Congenital myopathy?

Contents

What is Congenital myopathy?

Congenital myopathy: A very rare inherited disorder where muscles are overly-responsive to stimuli because of an abnormality in the muscle membranes. It causes prolonged muscle contraction which is muscle stiffness. The two main forms of myotonia congenital are Thomsen and Becker disease which are respectively inherited dominantly and recessively.

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

Congenital myopathy: Introduction

How many people get Congenital myopathy?

Prevalance of Congenital myopathy: estimated 1 per 10,000 people from Scandinavia suffer from myotonia congenita worldwide, Genetics Home Reference website
Prevalance Rate of Congenital myopathy: approx 1 in 10,000 or 0.01% or 27,200 people in USA [about data]

How serious is Congenital myopathy?

Prognosis of Congenital myopathy: clumsiness which becomes worse after 2nd or 3rd decade
Complications of Congenital myopathy: see complications of Congenital myopathy
Prognosis of Congenital myopathy: Most cases of myotonia congenita are nonprogressive and relatively nonlimiting. (Source: excerpt from NINDS Myotonia Congenita Information Page: NINDS)

What causes Congenital myopathy?

Causes of Congenital myopathy: see causes of Congenital myopathy

What are the symptoms of Congenital myopathy?

Symptoms of Congenital myopathy: see symptoms of Congenital myopathy

Complications of Congenital myopathy: see complications of Congenital myopathy

Onset of Congenital myopathy: 4-12 years or sometimes later in males

Congenital myopathy: Testing

Diagnostic testing: see tests for Congenital myopathy.

Misdiagnosis: see misdiagnosis and Congenital myopathy.

How is it treated?

Treatments for Congenital myopathy: see treatments for Congenital myopathy
Research for Congenital myopathy: see research for Congenital myopathy

Name and Aliases of Congenital myopathy

Main name of condition: Congenital myopathy

Other names or spellings for Congenital myopathy:

myotonic generalized, myotonia congenital, Batten Turner congenital myopathy, Myotonia congenita, Thomsen disease, Becker disease, Myotonia congenita, autosomal dominant, THD

Batten Turner congenital myopathy, Becker disease, Myotonia congenita, Myotonia congenita, autosomal dominant, THD, Thomsen disease
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)