Tay sachs disease in adult










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Unfortunately many healthcare providers are not aware of the rare adult forms of these diseases and dismiss the initial diagnosis due to the age of the patient. Although the phenotypic spectrum of the disease has been well characterized, atypical presentations have been described in patients with LOTS. The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. There was no myalgia or muscle atrophy.

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The Natural History Of Late Onset Tay

Her extraocular movements were full in all directions, with normal saccades, optokinetic nystagmus, and no square wave jerks. We thank the patient for her careful assembling of her records. While total hexosaminidase quantification was normal Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Although infantile Tay-Sachs disease is lethal, the prognosis is more variable in LOTS, making its accurate diagnosis important for different reasons.

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What is late onset tay

By her late 40s, balance problems led to falls and injuries, and by age 51 she used a walker intermittently. Occasional mild chorea was seen, mostly in the form of fidgetiness while seated, although some subtle upper trunk movements were also present. SCA 2 may present with progressive ataxia, parkinsonism and motor neuropathy 6 . SCA 3 typically affects the cerebellar, pyramidal, extrapyramidal, motor neuron, and oculomotor systems 7 . SCA 36 may show adult-onset truncal and limb ataxia, dysarthric ataxia, hyperreflexia, fasciculations, and atrophy 8 . and in SCAR8 upper and lower motor involvement may precede the development of cerebellar ataxia 9 by years. This year-old woman had leg cramps and difficulty running since childhood but was otherwise in excellent health until her early 20s when she had difficulty arising from a chair and stepping from a curb. The initial presentation of motor neuron disease followed years later by cerebellar ataxia attests to the phenotypic progression that may be seen in individuals throughout their lifetimes. Conclusions The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations.

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Description: Miglustat in late-onset Tay-Sachs disease. Rowland for his insightful review of the manuscript. Late-onset Tay-Sachs disease. A follow-up DNA test may be recommended. Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. Records from her evaluation at age 28 reported symmetric proximal arm and leg weakness. Brain MRI was reportedly unremarkable.
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