Clinicopathological features of genetically confirmed Danon disease.

Abstract

BACKGROUND:

Danon disease is due to primary deficiency of lysosome-associated membrane protein-2.

OBJECTIVE:

To define the clinicopathologic features of Danon disease.

METHODS:

The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were reviewed.

RESULTS:

All patients had cardiomyopathy, 18 of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy, and 14 of 20 male patients (70%) and one of 18 female patients (6%) had mental retardation. Men were affected before age 20 years whereas most affected women developed cardiomyopathy in adulthood. Muscle histology revealed basophilic vacuoles that contain acid phosphatase-positive material within membranes that lack lysosome-associated membrane protein-2. Heart transplantation is the most effective treatment for the otherwise lethal cardiomyopathy.

CONCLUSIONS:

Danon disease is an X-linked dominant multisystem disorder affecting predominantly cardiac and skeletal muscles.

• Authors: K Sugie, A Yamamoto, K Murayama, S J Oh, M Takahashi, M Mora, J E Riggs, J Colomer, C Iturriaga, A Meloni, C Lamperti, S Saitoh, E Byrne, S DiMauro, I Nonaka, M Hirano, I Nishino
• Journal: Neurology (Neurology) Vol. 58 Issue 12 Pg. 1773-8 (Jun 25 2002) ISSN: 0028-3878 [Print] United States
• PMID: 12084876 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Antigens, CD
• Lysosome-Associated Membrane Glycoproteins
• Membrane Glycoproteins

Topics

• Adolescent
• Adult
• Antigens, CD (genetics)
• Cardiomyopathies (enzymology, genetics, pathology)
• Child
• Female
• Humans
• Intellectual Disability (enzymology, genetics, pathology)
• Lysosomal Storage Diseases (enzymology, genetics, pathology)
• Lysosome-Associated Membrane Glycoproteins
• Male
• Membrane Glycoproteins (deficiency, genetics)
• Middle Aged
• Muscle, Skeletal (enzymology, pathology)
• Mutation (genetics)
• Pedigree