Svensk definition
En grupp nedärvda sjukdomar som delar likartade fenotyper, men som är olika genetiskt. Olika genetiska loci för autosomalt recessiva, autosomalt dominanta och x-bundna former av ärftlig spastisk paraplegi har identifierats. Kliniskt uppvisar patienterna långsamt framåtskridande svaghet i distala lemmar och spasticitet i de nedre extremiteterna. Perifera, sensoriska receptorceller kan påverkas i de senare stadierna av sjukdomen.
Engelsk definition
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Svenska synonymer
Hereditär spastisk parapares — Spastisk paraplegi typ 2 — Ärftlig spastisk paraplegi
Engelska synonymer
Paraplegia, Spastic, Hereditary — Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy — Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy — Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia — Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia — Hereditary Spastic Paraplegia — Hereditary Spastic Paraplegias — Paraplegia, Hereditary Spastic — Paraplegias, Hereditary Spastic — Spastic Paraplegias, Hereditary — X-Linked, Spastic Paraplegia, Hereditary — Hereditary Autosomal Dominant Spastic Paraplegia — Autosomal Dominant Hereditary Spastic Paraplegia — Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant — Spastic Paraplegia, Hereditary, Autosomal Dominant — Hereditary, Spastic Paraplegia, Autosomal Dominant — Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant — Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant — Autosomal Dominant Spastic Paraplegia Hereditary — Spastic Paraplegia, Autosomal Dominant, Hereditary — Hereditary X-Linked Recessive Spastic Paraplegia — Hereditary X Linked Recessive Spastic Paraplegia — Spastic Paraplegia, Hereditary, X-Linked Recessive — X Linked Recessive Hereditary Spastic Paraplegia — X-linked Recessive Hereditary Spastic Paraplegia — Spastic Paraplegia Type 2 — Spastic Paraplegia 2 — Hereditary, Spastic Paraplegia, X-Linked Recessive — Spastic Paraplegia, X-Linked Recessive, Hereditary — Hereditary Motor-Sensory Neuropathy with Pyramidal Signs — Hereditary Motor Sensory Neuropathy with Pyramidal Signs — HMSN V (Hereditary Motor and Sensory Neuropathy Type V) — Type V Hereditary Motor and Sensory Neuropathy — CMT with Pyramidal Features — Hereditary Motor and Sensory Neuropathy 5 — Hereditary Motor And Sensory Neuropathy V — HMSN V — HMSN Type V — Type V, HMSN — HMSN 5 — Autosomal Recessive Hereditary Spastic Paraplegia — Autosomal Recessive Spastic Paraplegia, Hereditary — Spastic Paraplegia, Hereditary, Autosomal Recessive — Hereditary Spastic Paraplegia, Autosomal Recessive — Hereditary Autosomal Recessive Spastic Paraplegia — Spastic Paraplegia, Autosomal Recessive, Hereditary