Disease Information for Sandhoff disease

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Doll Like Facies/Infant
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Muscle weakness
Ataxia
Dystonia
Infant Seizures
Infant with exaggerated startle reaction
Limb ataxia/clumsiness child
Mental Slowing Deteriation
Motor slowing
Myoclonus/Myoclonic jerks on exam
Progressive macrocephaly/infant/sign
Seizures
Startle Myoclonus
Weakness/Diffuse motor loss
Macrocephaly/Large head
Megalocephaly
Splenomegaly
Cherry red spot/retinal sign
Painless Vision Loss
Visual acuity decreasing
Clinical Presentation & Variations
Presentation/Recurrent Infections
Presentation/Recurrent respiratory infections
Presentation/Degenerative cerebral disease Progressive Child
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Death by age 3 to 4 usually
Course/Lethal
Course/Prognosis bad/usually
Course/Progressive
Onset/Six months
Prognosis/Childhood-congenital early death usual
Demographics & Risk Factors
Ethnic or Racial Factors
Argentina Creole Population
Ashkenasi Jewish population
Canadian Mete Indian/Saskatchewan Population
Eastern European population
Lebanese Population
Maronite Community Cyprus population
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Toddler
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Filter paper spot/newborn blood test abnormal
Abnormal Lab Findings - Decreased
Hexosaminidase (Lab)
URINE Hexosaminidase
Associated Diseases & Rule outs
Rule Outs
Congenital Blindness
Tay sachs disease
Associated Disease & Complications
Blindness
Blindness in Children
Developmental neurologic degeneration/child
Megaloencephaly
Pneumonia, recurrent
Sandhoff disease
Skeletal/bone malformations
Deafness Acquired
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 5q13
Pathophysiology/Gene locus Chromosome 15
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene locus Chromosome 5q
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hexosaminidase A and B Deficiency
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Diffuse/progressive cerebral disease
Pathophysiology/Extreme startle reaction
Pathophysiology/HEXB Gene Mutation
Pathophysiology/Gene locus 5q11
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Ethnic predilection (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sphingolipid metabolic disorder (ex)
PROCESS/Storage disorder (ex)
PROCESS/Two/multiple subsets/disease pattern
Synonyms
Synonym
DEFIC DIS HEXOSAMINIDASE A AND B, Deficiency Disease Hexosaminidase A and B, G(M2) Gangliosidosis Type II, Gangliosidosis G(M2) Type II, GANGLIOSIDOSIS GM 02 TYPE II, Gangliosidosis GM2 Type II, GM GANGLIOSIDOSIS 02 TYPE II, GM2 gangliosidosis type 2, GM2 gangliosidosis type II, HEXOSAMINIDASE A AND B DEFIC DIS, hexosaminidase a and b deficiency, Hexosaminidase A and B Deficiency Disease, HEXOSAMINIDASES A AND B DEFICIENCY, O variant, Sandhoff, SANDHOFF DIS, Sandhoff Disease, Sandhoff disease (disorder), Sandhoff Jatzkewitz disease, Sandhoff Jatzkewitz Pilz disease, SANDHOFFS DIS, Sandhoffs Disease, Sandhoff's Disease, Total hexosaminidase deficienc, Total hexosaminidase deficiency, Early Onset Ataxia/Children, Synonym/Amaurotic familial idiocy, infantile, Synonym/Beta Hexosaminidase B Deficiency, Synonym/Gangliosidosis/type 2 GM2, Synonym/Infantile ganglioside lipidosis, Synonym/Sandhoff-Jatzkewitz Disease, Synonym/Sandhoff-Jatzkewitz Pitz Disease, Synonym/Tay Sachs variant/visceral
Treatment
Other Treatments
TX/Genetic counselling
TX/Potential Stem Cell Research RX
Definition

Sandhoff disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease--which is prevalent primarily in people of Eastern European and Ashkenazi Jewish descent--but it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, seizures, and myoclonus (shock-like contractions of a muscle). Other symptoms may include frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures.  In other ongoing studies, a small number of children have received an experimental treatment using transplants of stem cells from umbilical cord blood.  Although these limited trials have not yet produced a treatment or cure, scientists continue to study these and other investigational approaches. The prognosis for individuals with Sandhoff disease is poor. Death usually occurs by age 3 and is generally caused by respiratory infections. The National Institute of Neurological Disorders and Stroke

(NINDS 2009)

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External Links Related to Sandhoff disease
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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