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sandhoff disease/astènia
L'enllaç es desa al porta-retalls
10 resultats
[Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression].
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A 35-year old Japanese male with adult Sandhoff disease was described, who was presented as a motor neuron disease phenotype with slow progression. At the age of 15, he first noticed weakness in his thigh. At the age of 28, his upper and lower motor neuron disturbances were disclosed. He was
An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty.
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Infants with Sandhoff disease typically appear normal until 3-6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with
[HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].
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OBJECTIVE
To investigate the phenotype and genotype of a Chinese boy and his family affected by infantile Sandhoff disease.
METHODS
The proband, a boy, was the first child born to a non-consanguineous couple. He showed startle reaction after birth and progressive psychomotor regression from the age
[A case of juvenile Sandhoff disease].
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A Japanese male with juvenile Sandhoff disease is described. The patient was a product of full-term normal pregnancy from non-consanguineous parents. Since age 10, he developed progressive dysarthria and proximal muscle atrophy and weakness. Mental deterioration and cerebellar ataxia are also noted
Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.
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A 32 year old male is described with an onset of upper limb postural tremor in adolescence followed by muscle cramps. Progressive proximal amyotrophy and weakness in the limbs developed late in the third decade. Examination disclosed, in addition, bilateral facial weakness and mild dysarthria.
Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.
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Infantile Sandhoff disease is an autosomal recessive inherited disease primarily characterized by cherry red spots in the retina, muscle weakness, seizure, truncal hypotonia, hyperacusis, developmental delay and regression. The pathogenic genetic defects of the HEXB gene, which encodes the β subunit
Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.
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We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (alpha subunit) or Hexb (beta subunit) genes, respectively, encoding lysosomal beta-hexosaminidase A (structure, alpha) and B (structure, beta beta). Both mutant mice accumulate GM2 ganglioside
Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency.
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Two sisters presented with progressive muscle cramps, as well as wasting and weakness of the legs with onset after age 20. They also showed intention tremor of the upper extremities and dysarthria starting during the first decade. The older patient also had fasciculations; the younger,
[A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties].
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Here, we report a Japanese man with adult Sandhoff disease who presented with a motor neuron disease phenotype with slow progression. At the age of 42, he noticed weakness in his legs. At the age of 46, he was admitted to our hospital. Neurological examination revealed muscle weakness and atrophy of
Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.
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An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement. 25 years from the onset, his muscle weakness slightly worsened but he was fully independent in activities of daily living. GM2-gangliosidosis can
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