Jansky–Bielschowsky disease
Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. It is caused by the accumulation of lipopigments in the body due to a deficiency in tripeptidyl peptidase I as a result of a mutation in the TPP1 gene. Symptoms appear between ages 2 and 4 and consist of typical neurodegenerative complications: loss of muscle function (ataxia), drug resistant seizures (epilepsy), apraxia, development of muscle twitches (myoclonus), and vision impairment. This late-infantile form of the disease progresses rapidly once symptoms are onset and ends in death between age 8 and teens. The prevalence of Jansky–Bielschowsky disease is unknown, however NCL collectively affects an estimat
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Anne-Mari VirolainenBielschowsky-Jansky diseaseBielschowsky–Jansky diseaseCLN5Cerliponase alfaFinnish heritage diseaseJansky-BielschowskyJansky-Bielschowsky diseaseJansky (disambiguation)List of conditions treated with hematopoietic stem cell transplantationList of diseases (J)Lysosomal storage diseaseNeuronal ceroid lipofuscinosis
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Jansky–Bielschowsky disease
Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. It is caused by the accumulation of lipopigments in the body due to a deficiency in tripeptidyl peptidase I as a result of a mutation in the TPP1 gene. Symptoms appear between ages 2 and 4 and consist of typical neurodegenerative complications: loss of muscle function (ataxia), drug resistant seizures (epilepsy), apraxia, development of muscle twitches (myoclonus), and vision impairment. This late-infantile form of the disease progresses rapidly once symptoms are onset and ends in death between age 8 and teens. The prevalence of Jansky–Bielschowsky disease is unknown, however NCL collectively affects an estimat
has abstract
Choroba Jansky’ego-Bielschowsk ...... owo neuropatologię schorzenia.
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Jansky–Bielschowsky disease is ...... euronal ceroid lipofuscinosis.
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Боле́знь Бильшо́вского — Янско ...... изосомных болезней накопления.
@ru
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17,355,238
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950,308,576
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Jansky–Bielschowsky disease is inherited in an autosomal recessive manner
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Choroba Jansky’ego-Bielschowsk ...... owo neuropatologię schorzenia.
@pl
Jansky–Bielschowsky disease is ...... ollectively affects an estimat
@en
Боле́знь Бильшо́вского — Янско ...... изосомных болезней накопления.
@ru
label
Choroba Jansky’ego-Bielschowsky’ego
@pl
Jansky–Bielschowsky disease
@en
Болезнь Бильшовского — Янского
@ru