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Danon Disease

An X-linked dominant lysosomal disorder caused by LAMP2 gene mutations, with cardiac, muscular and cognitive involvement.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

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

What is Danon Disease?

Danon disease is a rare X-linked dominant lysosomal storage disorder caused by mutations in the LAMP2 gene (lysosome-associated membrane protein 2). It is characterized by accumulation of autophagic vacuoles in skeletal muscle, myocardium and brain.

The classic triad is hypertrophic cardiomyopathy (often very severe), skeletal myopathy and cognitive impairment. Men are more severely affected and may succumb to advanced heart failure or arrhythmia at a young age; women usually show a milder phenotype.

Diagnosis is based on autophagic vacuoles on muscle or cardiac biopsy and genetic testing. A preexcitation pattern (short PR, delta wave) is typical on ECG. Treatment is symptomatic; heart transplantation is the only definitive option in advanced disease.

Symptoms

Exertional dyspnea
Palpitations and syncope
Muscle weakness (especially in the legs)
Exercise intolerance
Cognitive impairment
WPW syndrome and arrhythmias
Advanced heart failure in later stages

Risk Factors

Family history of LAMP2 mutation
Male sex (more severe phenotype)
Early-onset disease
Family history of cardiomyopathy
Positive genetic test
Combined myopathy and cognitive impairment
Presence of WPW syndrome

When to See a Doctor?

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

  • Unexplained hypertrophic cardiomyopathy
  • WPW syndrome at a young age
  • Cardiac hypertrophy with muscle weakness
  • Family history of sudden cardiac death
  • Recurrent syncope
  • Heart failure at a young age

Treatment Methods

01
Medical therapy for heart failure
02
ICD implantation to prevent sudden death
03
Catheter ablation for WPW and arrhythmia
04
Heart transplantation in advanced disease
05
Physical therapy and musculoskeletal support
06
Neurocognitive support
07
Genetic counseling

Which Department to Visit?

You can visit our Kardiyoloji 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.