Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered α-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown.
Walker–Warburg syndrome
Warburg Micro syndrome
Sandhoff disease
Cohen-Gibson syndrome
Zaki syndrome
Stratton Parker syndrome
Evans syndrome
Menkes disease