Spastic Paraplegia (definition)

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Spastic Paraplegia, Hereditary

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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)

coord with GENES, DOMINANT or GENES, RECESSIVE if discussed

Other names X-Linked, Spastic Paraplegia, Hereditary; Hereditary Spastic Paraplegia; X linked Recessive Hereditary Spastic Paraplegia; Spastic Paraplegias, Hereditary; Spastic Paraplegia Hypertrophic Motor Sensory Neur; Paraplegias, Hereditary Spastic; Paraplegia, Hereditary Spastic; Hypertrophic Motor Sensory Neuropathy Spastic Para; Hereditary X Linked Recessive Spastic Paraplegia; Hereditary Spastic Paraplegias; Hereditary Motor Sensory Neuropathy with Pyramidal; Charcot Marie Tooth Disease with Pyramidal Feature; X-linked Recessive Hereditary Spastic Paraplegia; Type V Hereditary Motor and Sensory Neuropathy; Spastic Paraplegia-Hypertrophic Motor-Sensory Neur; Spastic Paraplegia, X-Linked Recessive, Hereditary; Type V, HMSN; Spastic Paraplegia, Hereditary, X-Linked Recessive; Spastic Paraplegia, Hereditary, Autosomal Recessiv; Spastic Paraplegia, Hereditary, Autosomal Dominant

Substance	CAS Registry & name	Categories	Source
Nakamura Osame syndrome	0	Intellectual Disability Spastic Paraplegia, Hereditary *Agenesis of Corpus Callosum.
Fitzsimmons-Guilbert syndrome	0	Dysarthria Spastic Paraplegia, Hereditary *Brachydactyly.
Fitzsimmons Walson Mellor syndrome	0	Glomerulonephritis, IGA Hearing Loss, Sensorineural Intellectual Disability Muscle Spasticity *Spastic Paraplegia, Hereditary.
Bahemuka Brown syndrome	0	Dermatitis Dysarthria Reflex, Abnormal Spastic Paraplegia, Hereditary.
Volcke Soekarman syndrome	0	Dandy-Walker Syndrome Growth Disorders Intellectual Disability Spastic Paraplegia, Hereditary Brain/abnormalities Skull/abnormalities.
Spastic paraplegia 14, autosomal recessive	0	Intellectual Disability Spastic Paraplegia, Hereditary.
Spastic paraplegia 13, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 12, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 11, autosomal recessive	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 10, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic diplegia infantile type	0	Intellectual Disability Spastic Paraplegia, Hereditary.
Mental retardation spasticity ectrodactyly	0	Intellectual Disability Spastic Paraplegia, Hereditary *Limb Deformities, Congenital.
Arena syndrome	0	Spastic Paraplegia, Hereditary Mental Retardation, X-Linked.
Hereditary spastic paralysis, infantile onset ascending	0	*Spastic Paraplegia, Hereditary.
Fitzsimmons-McLachlan-Gilbert syndrome	0	Keratoderma, Palmoplantar Intellectual Disability *Spastic Paraplegia, Hereditary.
Spastic paraplegia with precocious puberty	0	Puberty, Precocious Spastic Paraplegia, Hereditary.
Spastic paraplegia with Kallmann syndrome	0	Spastic Paraplegia, Hereditary Kallmann Syndrome.
Spastic paraplegia type 5B, recessive	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia type 5A, recessive	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia neuropathy poikiloderma	0	Rothmund-Thomson Syndrome Spastic Paraplegia, Hereditary.
Spastic paraplegia epilepsy mental retardation	0	Intellectual Disability Spastic Paraplegia, Hereditary.
Spastic paraplegia 9, autosomal dominant	0	Cataract Growth Disorders *Spastic Paraplegia, Hereditary Bone and Bones/abnormalities.
Spastic paraplegia 8, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 6, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 4, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 3, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 29, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 26, autosomal recessive	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 25, autosomal recessive	0	Intervertebral Disc Displacement Spastic Paraplegia, Hereditary.
Spastic paraplegia 24	0	Deafness Spastic Paraplegia, Hereditary.
Spastic paraplegia 23	0	Pigmentation Disorders Vitiligo Spastic Paraplegia, Hereditary Facies.
Spastic paraplegia 20, autosomal recessive	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 2, X-linked	0	Spastic Paraplegia, Hereditary Genetic Diseases, X-Linked.
Spastic paraplegia 19, autosomal dominant	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 17	0	*Spastic Paraplegia, Hereditary.
Spastic paraplegia 16, X-linked	0	Spastic Paraplegia, Hereditary Genetic Diseases, X-Linked.
Spastic paraplegia 15, autosomal recessive	0	Retinal Degeneration Spastic Paraplegia, Hereditary.
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome	0	Intellectual Disability Spastic Paraplegia, Hereditary.
Roy Maroteaux Kremp syndrome	0	Nervous System Diseases Osteopetrosis Skin Diseases Spastic Paraplegia, Hereditary.
Costeff optic atrophy syndrome	0	Chorea Metabolism, Inborn Errors Optic Atrophy Spastic Paraplegia, Hereditary.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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