clinical features
Last reviewed 08/2022
Clinical features include low IQ, cardiomegaly, heart failure and cardiomyopathy. There are large QRS complexes and a short PR interval. Blood sugar, lipids and ketones are normal.
In the classical infantile form of the disease, there is cardiac failure, gross hypotonia and death before 6 months.
In the juvenile form death is during childhood. There is also an adult form.