AP4E1

Management

Patients should be evaluated periodically (i.e., every 6-12 months) by an interdisciplinary team that includes a neurologist, clinical geneticist, developmental specialist, orthopedic surgeon/physiatrist, physical therapist, occupational therapist, and speech and language pathologist to assess disease progression, maximize ambulation and communication skills, and reduce other manifestations.

At present, no treatment prevents, halts, or reverses symptoms in AP4E1-associated hereditary spastic paraplegia. Treatment is directed at reducing symptoms and preventing secondary complications.