Carnitine primary deficiency. Muscle form.
Incidence
Very rare. AR inheritance
Clinical Characteristics
Progressive muscle weakness beginning in childhood. It is a myopathic disease. Large amounts of neutral lipid material are present in type 1 fibers. Muscle carnitine levels are low, but serum levels are normal. Little correlation exists between muscle carnitine levels and the severity of symptoms. FTT, hypotonia mainly neck muscles.Muscle atrophy. Reduced DTR's. Myopathic EMG. A cardiomyopathy is often associated.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-muscle, carnitine levels in muscle is low, but normal in serum