Clinicopathological features of genetically confirmed Danon disease.
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.
Sugie
K
K
Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Yamamoto
A
A
Murayama
K
K
Oh
S J
SJ
Takahashi
M
M
Mora
M
M
Riggs
J E
JE
Colomer
J
J
Iturriaga
C
C
Meloni
A
A
Lamperti
C
C
Saitoh
S
S
Byrne
E
E
DiMauro
S
S
Nonaka
I
I
Hirano
M
M
Nishino
I
I
D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D009202:Cardiomyopathies / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D051907:Lysosomal Membrane Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree
D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins