Glycogen storage disease type 4
The other 4 variations are less common. A fatal perinatal neuromuscular variant consists of hydrops fetalis, fetal akinesia deformation sequence, atrophy, polyhydramnios, and severe hypotonia. These patients typically do not survive past the neonatal period. A congenital neuromuscular variant results in severe muscle weakness, respiratory distress, cardiomyopathy, and death in early infancy. A nonprogressive hepatic variant results in less severe hepatomegaly, myopathy, hypotonia, and liver dysfunction. These patients usually have lifespans into adulthood. Finally, a childhood neuromuscular variant presents in late childhood with myopathy and dilated cardiomyopathy. Some patients with this variant are severely affected and may die by early adulthood, but others only present with mild weaknesses.
For more information, see OMIM.
E74.09 – Other glycogen storage disease
11179002 – Glycogen storage disease, type IV
- Other glycogen storage disease types (eg, type 3)
- Mitochondrial DNA depletion syndrome
- Limb-girdle muscular dystrophy
- Duchenne muscular dystrophy
- Mitochondrial myopathy (eg, Pearson syndrome, Leigh syndrome)