DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Myotonic Dystrophy

HIGH SEVERITY

The most common adult muscular dystrophy, caused by CTG repeat expansion in DMPK (DM1) or CCTG in CNBP (DM2). Multisystem disorder with myotonia, progressive muscle weakness, cardiac conduction abnormalities, cataracts, and endocrine dysfunction.

Global Affected

1.5M

Countries

15

Symptoms

Myotonia (muscle stiffness)
Progressive muscle weakness
Cardiac conduction defects
Cataracts
Endocrine dysfunction
Cognitive impairment
Respiratory weakness
Dysphagia

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Type 1: progressive disability, death 45-60 years from cardiac or respiratory. Type 2: milder course. Anticipation with worsening in offspring. Regular monitoring essential.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Supportive care. Cardiac monitoring and pacemaker if needed. MEXiletine for myotonia. Physical therapy. No disease-modifying therapy yet. Antisense oligonucleotides (IONIS-DMPKRx) in trials for DM1.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChina

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.