Animal trials using enzyme replacement therapy are ongoing. A clinical geneticist is advised to counsel families regarding risk to future pregnancies. Since all patients require an EMG, involve the neurology service. Experienced interpretation of ECHO findings is necessary. As noted above, alterations in diet do not provide lasting improvement.
Weakness can contribute to feeding difficulty in all patients.
Weakness may interfere with the normal daily activities of adult patients. Physical and occupational therapy may prove beneficial. Chorionic villus sampling and amniocentesis can both be used to determine enzyme activity in a fetus. Prenatal diagnoses with as early as 10-week gestation are reported. Emphasize the genetic basis to family members, and encourage communication within the family in order to identify additional carriers.