/hereditary spastic paraplegia 2

hereditary spastic paraplegia 2

Rare Disease

MONDO:0010733

Also Known As

PLP1 hereditary spastic paraplegiaSPG2X-linked spastic paraplegia 2X-linked spastic paraplegia type 2hereditary spastic paraplegia caused by mutation in PLP1hereditary spastic paraplegia type 2spastic gait type 2spastic paraparesis type 2spastic paraplegia 2, X-linked, X-linked recessivespastic paraplegia type 2Sppx2spastic paraplegia 2spastic paraplegia 2, X-linked

Definition

Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.