Myotonic Dystrophy - Medtick
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Myotonic Dystrophy

What is it?

  • Inherited muscle disorders normally occurring at adulthood causing:
    • Muscle wasting and weakness of legs, neck shoulders, hands, face, elbows and hips.
    • Slurred speech
    • Temporary locking of jaw
    • Cataracts
    • Heart problems

One Tend to have long muscle contractions and can’t relax muscles after use i.e.

  • Difficult releasing the grip on a door knob after opening.

There are two forms of these genetic forms

Dystrophia myotonia type 1

  • Dystrophia myotonia (mild)
    • DM1 can develop at birth (congenital form), during childhood (juvenile form) and during adulthood (adult form).
    • The adult form is the most common form and usually begins in a person’s 30s. Generally, the signs and symptoms of these disorders progress slowly.
  • Dystrophia myotonia (classic)

Dystrophia myotonia type 2

  • Similar symptoms to Dystrophia myotonia type 1, but is generally a less severe disorder and does not cause congenital disease.
  • It normally occurs after the age 20-60.

Cause

  • Dystrophia myotonia type 1 : Change or alteration in the myotonic dystrophy protein kinase (DMPK) gene.
  • Dystrophia myotonia type 2: Change or alteration in the nucleic acid-binding protein (CNBP) gene; this gene is also called the ZNF9 gene.

For more detail explanation on what makes the disease: Mild, Classic or a Less serious form

National Organization of Rare diseases

Symptoms

(Symptoms can vary and overlap and not all symptoms will develop)

Dystrophia myotonia (mild)

  • Eye(s)/eyelid muscles drooping (ptosis)?
  • Clouding of the lenses of the eyes (cataracts)?
  • Breathing difficulties and/or short of breath?
  • Chewing difficulties?
  • Slurred speech?
  • Temporary locking of jaw?
  • Muscle wasting and weakness of legs ,neck shoulders, hands, face (facial muscle weakness), elbows and hips?
  • Aching, painful muscles, muscle cramps/spasms/stiffness?
  • Sustained muscle contractions (myotonia), in which the muscles do not relax after use?
  • General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?
  • Cardiomyopathy?
  • Heart arrhythmias?
  • Diabetes?
  • Gallstones?
  • Constipation?
  • Diarrhoea?
  • Loss of bladder control (incontinence)?
  • Pseudo-obstruction, which is caused by abnormalities in the involuntary, coordinated muscle contractions (peristalsis) of the gastrointestinal tract causing blockage of digestive tract:
    • Symptoms include:
    • Nausea, vomiting, abdominal pain, abdominal swelling (distention) and constipation?

Dystrophia myotonia (classic)

  • Muscle weakness and wasting (atrophy)?
  • Muscles of the neck and fingers are often the first muscles affected?
  • Muscle weakness slowly affects other muscles including muscles of the elbows, hips, thighs?
  • Aching, painful muscles, muscle cramps/spasms/stiffness?
  • Sustained muscle contractions (myotonia), in which the muscles do not relax after use?
  • General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?
  • Early-onset cataracts (i.e. before the age of 50)?

Complications /Information to beware of/General tips:

Do not wait, phone for ambulance if have or develop:

  • Cardiomyopathy
  • Pseudo-obstruction, which is caused by abnormalities in the involuntary, coordinated muscle contractions (peristalsis) of the gastrointestinal tract causing blockage of digestive tract:
  • Pneumonia
  • Respiratory failure

Pregnancy and infant/child

Dystrophia myotonia type 1 (not Dystrophia myotonia type 2) condition can lead to:

Congenital DM1

Symptoms includes:

This condition can lead to:

  • Male infertility (hypogonadism)
  • Excessive sweating
  • Hypothyroidism
  • Problems with concentration, organization and finding the right word when writing or speaking (word finding)

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Myotonic Dystrophy in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

References

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