/hereditary spastic paraplegia 34

hereditary spastic paraplegia 34

Rare Disease

MONDO:0010418

Also Known As

SPG34X-linked spastic paraplegia 34X-linked spastic paraplegia type 34hereditary spastic paraplegia type 34spastic paraplegia 34, X-linked, X-linked recessivespastic paraplegia 34, X-linked

Definition

X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.