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Myotonic Dystrophy

An inherited multisystem disease characterized by muscle weakness and myotonia.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Myotonic Dystrophy?

Myotonic dystrophy is an autosomal dominant inherited multisystem muscle disease. It has two main types: Type 1 (DM1, more common and more severe) and Type 2 (DM2, generally milder).

Clinically, in addition to muscle weakness, myotonia (inability of the muscle to relax after contraction), early cataracts, cardiac arrhythmias, respiratory issues, endocrine changes, and cognitive involvement are seen.

Diagnosis is established by clinical evaluation, EMG, and genetic testing. Treatment is multidisciplinary and symptomatic; cardiac and respiratory follow-up are critical for life expectancy.

Symptoms

Weakness of facial and neck muscles (tired appearance)
Difficulty releasing the hand after a handshake (myotonia)
Early cataracts
Cardiac arrhythmias
Early baldness (in men)
Sleep apnea and daytime somnolence
Learning difficulty and cognitive slowing

Risk Factors

Family history of myotonic dystrophy
DMPK (DM1) or CNBP (DM2) gene mutations
Maternal transmission with anticipation (worsening severity)
Consanguinity (rare)
Family history of early cataract or heart block
History of early-onset muscle weakness
Congenital hypotonia and developmental delay

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Unexplained muscle weakness with myotonia
  • Detection of early cataract or cardiac arrhythmia
  • Neonatal hypotonia
  • Family history of myotonic dystrophy (genetic counseling)
  • Pre-anesthesia genetic disease history must be queried

Treatment Methods

01
Multidisciplinary follow-up (neurology, cardiology, ophthalmology, endocrinology)
02
Drugs such as mexiletine for myotonia
03
Cardiac monitoring and pacemaker if needed
04
Respiratory support for sleep apnea
05
Cataract surgery
06
Physical therapy and lifestyle adjustments

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.