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  • Progressive spasticity of the lower limbs with exaggerated deep tendon reflexes and Babinski sign classified as pure (with spasticity as the only manifestation) and complicated (with brain abnormalities and mental retardation) forms which are further subdivided into several categories according to their genetic and clinical characteristics. It is involved in numerous syndromic entities. spastic paraplegia 1 (SPG1) (OMIM 312900) Synonym: X-linked complicated spastic paraplegia (SPPX1) Spastic paraplegia, transmitted as an X-linked trait, with neurological complications involving the cerebellum, cerebral cortex, and optic nerves. Severe mental retardation is a constant feature. spastic paraplegia 2 (SPG2) (OMIM 312920) Synonyms: Goldblatt syndrome X-linked uncomplicated spastic paraplegia (SPPX2) Spastic paraplegia, transmitted as an X-linked trait, with nystagmus, optic atrophy, intellectual handicap, and mild ataxia of the upper limbs. spastic paraplegia 3 (SPG3) (OMIM 182600) Synonyms: Strumpell disease Strumpell familial spastic paraplegia Strumpell-Lorrain syndrome von Strumpell syndrome A slowly progressive familial disease, transmitted as an autosomal dominant trait, with lower limb spasticity, gait difficulties, and weakness. Neurological changes involve the lateral cortical tracts and fasciculus gracilis. Some patients exhibit ataxia and neurogenic bladder. spastic paraplegia 4 (SPG4) (OMIM 182601) An uncomplicated form of SPG2 transmitted as an autosomal dominant trait and marked mainly by progressive spasticity of the lower limbs. spastic paraplegia-epilepsy-mental retardation (SPERM) syndrome (OMIM 182610) A syndrome with incomplete penetrance and variable expresivity with progressive weakness and spasticity of the lower limbs, epilepsy, and mental retardation. spastic paraplegia-sensorineural deafness-mental retardation-progressive nephropathy syndrome (OMIM 182690) A complicated form, transmitted as an autosomal dominant trait, with variable spasticity of the lower limbs, sensorineural deafness, delayed mental development, and progressive nephropathy. spastic paraplegia-amyotrophy of hands syndrome (OMIM 182700) Synonyms: Silver syndrome spastic paraplegia-amyotrophy of hands syndrome Spastic paraplegia transmitted, as an autosomal dominant trait, with amyotrophic changes in the upper limbs. spastic paraplegia-extrapyramidal signs syndrome (OMIM 182800) Spastic paraplegia associated with extrapyramidal signs and transmitted as an autosomal dominant trait. spastic paraplegia-neuropathy-poikiloderma syndrome (OMIM 182815) Spastic paraplegia associated with demyelinating peripheral neuropathy, poikiloderma, and loss of eyebrows and eyelashes which is transmitted as an autosomal dominant trait. spastic paraplegia-precocious puberty syndrome (OMIM 182820) Spastic paraplegia with Leydig cell hypoplasia, precocious puberty, brisk leg reflexes, dysarthria, and mild mental retardation which is transmitted as an autosomal dominant trait. spastic paraplegia-optic atrophy-dementia syndrome (OMIM 182830) Spastic paraplegia with optic atrophy, constricted visual fields, and early dementia, which is transmitted as an autosomal dominant trait. spastic paraplegia-retinal degeneration syndrome (OMIM 270700) Synonym: familial spastic paraplegia with retinal degeneration recessive spastic paraplegia with retinal degeneration Spastic paraplegia, transmitted as an autosomal recessive trait, with retinal degeneration and dull mentality. spastic paraplegia-brachydactyly E syndrome (OMIM 270710) Spastic paraplegia ,transmitted as an autosomal recessive trait, with brachydactyly type E, cone-shaped epiphyses, abnormal finger metaphyses, dysarthria, and low-normal intelligence. spastic paraplegia-pigmentary abnormalities syndrome (OMIM 270750) Spastic paraplegia, transmitted as an autosomal recessive trait, with abnormal pigmentation (mainly crural hypopigmentation, pigmented nevi, and depigmented hair), progressive spastic paraparesis, and cerebellar ataxia. hereditary spastic paraplegia (HSP) (OMIM 270800) Synonym: paraplegia spastica hereditaria Spastic paraplegia transmitted as an autosomal recessive trait. Neurological involvement includes pyramidal disorders, dysarthria, impaired vibratory sense, and dysfunction of the glossopharyngeal (ninth), vagus (tenth), and hypoglossal (twelfth) nerves. Mental retardation and visual disorders occur in some cases. spastic paraplegia-epileptic myoclonus syndrome (OMIM 270805) Synonym: hereditary spastic paraplegia-epileptic myoclonus syndrome Spastic paraplegia, transmitted as an autosomal recessive trait, with epileptic myoclonus, muscle atrophy, mental retardation or dullness, ataxia, and hearing loss. spastic paresis-glaucoma-mental retardation syndrome (OMIM 270850) Synonym: spastic paresis-glaucoma-mental retardation syndrome Spastic paraplegia with glaucoma and speech and mental retardation. Transmitted as an autosomal recessive trait with parental consanguinity. spastic athetotic paraplegia (OMIM 312890) Synonym: Baar-Gabriel syndrome Spastic paraplegia, transmitted as an X-linked trait, with athetosis, mental retardation and occasional grand mal epilepsy and myoclonus.
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