Myotonia congenita (patient information): Difference between revisions
m (Robot: Changing Category:Disease state to Category:Disease) |
|||
| (15 intermediate revisions by 4 users not shown) | |||
| Line 1: | Line 1: | ||
'''For the WikiDoc page for this topic, click [[Myotonia congenita|here]]''' | '''For the WikiDoc page for this topic, click [[Myotonia congenita|here]]''' | ||
{{ | {{Myotonia congenita (patient information)}} | ||
'''Editor-in-Chief:''' Alexandra M. Palmer | {{CMG}}; '''Assistant Editor(s)-in-Chief:''' Alexandra M. Palmer | ||
==Overview== | |||
== | |||
[[Myotonia congenita]] is an [[inherited]] [[condition]] that affects muscle relaxation. It is [[congenital]], meaning that it is present from birth. | [[Myotonia congenita]] is an [[inherited]] [[condition]] that affects muscle relaxation. It is [[congenital]], meaning that it is present from birth. | ||
==What are the symptoms of Myotonia congenita?== | ==What are the symptoms of Myotonia congenita?== | ||
The hallmark of this condition is the [[myotonia]] -- the inability of the [[muscle]] to quickly relax after [[Muscle contraction|contracting]]. For example, after a handshake, the person is only very slowly able to open and pull away his hand. | |||
Early symptoms may include: | |||
*Difficulty in [[swallowing]] | |||
*Gagging | |||
*Stiff movements that improve when they are repeated | |||
*[[Shortness of breath]] or tightening of the chest at the beginning of [[exercise]] | |||
Children with [[myotonia congenita]] often appear to be [[muscular]] and well-developed. The child may not have symptoms of [[myotonia congenita]] until age 2 or 3. | |||
==What causes Myotonia congenita?== | ==What causes Myotonia congenita?== | ||
[[Myotonia congenita]] is caused by a change ([[mutation]]) to a [[gene]]. It is passed down from either one or both parents to the children ([[inherited]]). | |||
[[Myotonia congenita]] is believed to be caused by a problem in the part of the [[muscle cells]] that are needed for [[muscles]] to relax. Abnormal repeated electrical discharges occur in the [[muscles]], causing a [[stiffness]] called [[myotonia]]. | |||
==Who is at risk | ==Who is at highest risk?== | ||
People with a [[family history]] of [[myotonia congenita]] are at risk, as the [[condition]] is [[genetic]]. | |||
== | ==When to seek urgent medical care?== | ||
Call your [[health care provider]] if your child has symptoms of [[myotonia congenita]]. | |||
== | ==Diagnosis== | ||
The doctor may ask if there is a [[family history]] of [[myotonia congenita]]. | |||
Tests include: | |||
*[[Muscle biopsy]] | |||
*Test of the electrical activity in [[muscles]] ([[EMG]]) | |||
==Treatment options== | ==Treatment options== | ||
Treatment for symptoms includes: | |||
*[[Mexiletine]] | |||
*[[Phenytoin]] | |||
*[[Procainamide]] | |||
==Where to find medical care for Myotonia congenita== | ==Where to find medical care for Myotonia congenita?== | ||
[http://maps.google.com/maps? | [http://maps.google.com/maps?q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|map+top+hospital+Myotonia congenita}}}}&oe=utf-8&rls=org.mozilla:en-US:official&client=firefox-a&um=1&ie=UTF-8&sa=N&hl=en&tab=wl Directions to Hospitals Treating Myotonia congenita] | ||
==What to expect (Outlook/Prognosis)== | ==What to expect (Outlook/Prognosis)?== | ||
People can do well with this [[condition]]. Symptoms only occur when a movement is first started. After a few repetitions, the [[muscle]] relaxes and the movement becomes normal. Symptoms may improve later in life. | |||
==Possible complications== | ==Possible complications== | ||
*[[Aspiration pneumonia]] caused by [[swallowing difficulties]] | |||
*Frequent [[choking]], gagging, or [[difficulty swallowing]] in an infant | |||
*[[Abdominal muscle]] weakness | |||
*[[Chronic]] [[joint]] problems | |||
==Sources== | ==Sources== | ||
http://www.nlm.nih.gov/medlineplus/ency/article/001424.htm | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Patient | |||
[[Category:Patient information]] | |||
[[Category:Channelopathy]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Genetic disorders patient information]] | |||
[[Category:Congenital disorders]] | |||
[[Category:Congenital disorders patient information]] | |||
[[Category:Musculoskeletal disorders]] | |||
[[Category:Neurological disorders]] | |||
[[Category:Neurology patient information]] | |||
[[Category:Overview complete]] | |||
[[Category:Template complete]] | |||
[[Category:Disease]] | |||
Latest revision as of 22:02, 9 December 2011
For the WikiDoc page for this topic, click here
|
Myotonia congenita |
|
Myotonia congenita On the Web |
|---|
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor(s)-in-Chief: Alexandra M. Palmer
Overview
Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth.
What are the symptoms of Myotonia congenita?
The hallmark of this condition is the myotonia -- the inability of the muscle to quickly relax after contracting. For example, after a handshake, the person is only very slowly able to open and pull away his hand.
Early symptoms may include:
- Difficulty in swallowing
- Gagging
- Stiff movements that improve when they are repeated
- Shortness of breath or tightening of the chest at the beginning of exercise
Children with myotonia congenita often appear to be muscular and well-developed. The child may not have symptoms of myotonia congenita until age 2 or 3.
What causes Myotonia congenita?
Myotonia congenita is caused by a change (mutation) to a gene. It is passed down from either one or both parents to the children (inherited).
Myotonia congenita is believed to be caused by a problem in the part of the muscle cells that are needed for muscles to relax. Abnormal repeated electrical discharges occur in the muscles, causing a stiffness called myotonia.
Who is at highest risk?
People with a family history of myotonia congenita are at risk, as the condition is genetic.
When to seek urgent medical care?
Call your health care provider if your child has symptoms of myotonia congenita.
Diagnosis
The doctor may ask if there is a family history of myotonia congenita.
Tests include:
- Muscle biopsy
- Test of the electrical activity in muscles (EMG)
Treatment options
Treatment for symptoms includes:
Where to find medical care for Myotonia congenita?
Directions to Hospitals Treating Myotonia congenita
What to expect (Outlook/Prognosis)?
People can do well with this condition. Symptoms only occur when a movement is first started. After a few repetitions, the muscle relaxes and the movement becomes normal. Symptoms may improve later in life.
Possible complications
- Aspiration pneumonia caused by swallowing difficulties
- Frequent choking, gagging, or difficulty swallowing in an infant
- Abdominal muscle weakness
- Chronic joint problems