SUCLA2

Management

Strict avoidance of catabolic situations (fasting, fever, heat/cold, (emotional) and stress.
Tube feeding (nasogastric or gastric tube), often feeding by pump is necessary if bolus feeding is not tolerated.
Avoid overloading with carbohydrates, prefer adding fat (MCT-fat or oil) if additional calories are needed for normal growth.
Physical therapy to maintain/improve muscle function and for prevention of contractures.
Bracing for treatment of contractures and scoliosis/kyphosis.
Pulmonary therapy for prevention of infections (PEP device, coughing device, nebulizer for saline); assisted nasal ventilation (Bi-PAP) especially during night.
Cochlear implant.
Communication by using special PC-programs.

Controversial therapies:
Vitamin E.
Ubiquinone CoQ10.

Regular clinical check-up for complications with routine (mito-) blood tests.
CAVEAT: Morphine/opioids might lead to prolonged apneas. During recovery from infections/catabolic periods episodes with (severe) bradycardia were observed (impaired function of brainstem?).