Hereditary Spastic Paraplegia / Metachromatic Leukodystrophy (Orthopaedic Sequelae)

Both hereditary spastic paraplegia and metachromatic leukodystrophy produce orthopaedic problems that closely resemble cerebral palsy, because they share the spasticity, or upper-motor-neuron, picture. Hereditary spastic paraplegia is a genetically heterogeneous group of inherited disorders of the corticospinal tracts causing progressive lower-limb spasticity and a spastic gait, while metachromatic leukodystrophy is an autosomal-recessive lysosomal leukodystrophy due to arylsulfatase A deficiency, causing progressive neuroregression with evolving tone and contractures. The spasticity-driven sequelae in both are familiar from cerebral palsy: equinus and pes planovalgus feet, a flexed-knee crouch gait, hip flexion and adduction deformity with the risk of hip displacement or subluxation, progressive contractures, and neuromuscular scoliosis. So I would use the same toolkit as in spastic cerebral palsy - tone management with physiotherapy, botulinum toxin and, in selected cases, baclofen; orthoses such as ankle-foot orthoses and custom insoles for pes planovalgus and foot pressure; and selective soft-tissue and bony surgery, including foot reconstruction, hip surveillance and reconstruction, and scoliosis correction. The crucial difference, which changes management, is that unlike cerebral palsy these are progressive disorders - hereditary spastic paraplegia worsens over time and metachromatic leukodystrophy is relentlessly progressive - so I would not assume a static baseline. The natural history and prognosis must shape the timing and extent of surgery, the realistic functional goals and the intensity of surveillance, within a multidisciplinary team including neurology and genetics, with honest discussion of the trajectory, especially in metachromatic leukodystrophy.