Currently, there is no therapy for PMLD1 and SPG44 other than supportive care. It includes ensuring adequate nutrition and providing standard treatment for developmental delay/cognitive impairment, neurologic complications (spasticity, ataxia, epilepsy, extrapyramidal movement disorders), communication difficulties, visual impairment, and others. Long-term follow-up of patients should be coordinated by a pediatrician or neuropediatrician with expertise in the field of leukodystrophy. Special attention should be given to growth, weight gain, vision, and routine monitoring of disease progression, as well as physical therapy, communication, and nutritional needs.
The primary focus of LMPH1C treatment is on patient-specific compression garments, careful skin care, use of complete decongestive therapy, manual lymph drainage techniques, and maintenance of a normal BMI. Treatment is not curative, but rather supportive and requires involvement by a certified lymphedema therapist to provide education, MLD technique guidance, day and nighttime compression to limit progression of disease.
GJC2