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Juvenile (Subacute) Hexosaminidase A Deficiency

MedGen UID:
468543
Concept ID:
CN120377
Disease or Syndrome
 

Disease characteristics

Excerpted from the GeneReview: Hexosaminidase A Deficiency
Hexosaminidase A deficiency results in a group of neurodegenerative disorders caused by intralysosomal storage of the specific glycosphingolipid, GM2 ganglioside. The prototype hexosaminidase A deficiency is Tay-Sachs disease, also known as the acute infantile variant. Tay-Sachs disease is characterized by progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response beginning between ages three and six months with progressive evidence of neurodegeneration including: seizures, blindness, spasticity, eventual total incapacitation, and death, usually before age four years. The juvenile (subacute), chronic, and adult-onset variants of hexosaminidase A deficiency have later onsets, slower progression, and more variable neurologic findings, including: progressive dystonia, spinocerebellar degeneration, motor neuron disease, and, in some individuals with adult-onset disease, a bipolar form of psychosis. [from GeneReviews]
Authors:
Michael M Kaback  |  Robert J Desnick   view full author information

Recent clinical studies

Etiology

Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT
Pediatrics 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2 doi: 10.1542/peds.2006-0588. PMID: 17015493Free PMC Article
Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG
Hum Mutat 2005 Sep;26(3):282. doi: 10.1002/humu.9363. PMID: 16088929

Diagnosis

Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT
Pediatrics 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2 doi: 10.1542/peds.2006-0588. PMID: 17015493Free PMC Article
Rozenberg R, Kok F, Burin MG, Sá Miranda MC, Vasques C, Henriques-Souza AM, Giugliani R, Vainzof M, Pereira LV
J Child Neurol 2006 Jun;21(6):540-4. doi: 10.1177/08830738060210061101. PMID: 16948947

Prognosis

Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT
Pediatrics 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2 doi: 10.1542/peds.2006-0588. PMID: 17015493Free PMC Article
Rozenberg R, Kok F, Burin MG, Sá Miranda MC, Vasques C, Henriques-Souza AM, Giugliani R, Vainzof M, Pereira LV
J Child Neurol 2006 Jun;21(6):540-4. doi: 10.1177/08830738060210061101. PMID: 16948947

Clinical prediction guides

Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT
Pediatrics 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2 doi: 10.1542/peds.2006-0588. PMID: 17015493Free PMC Article

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