Orphanet: Sandhoff disease
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Sandhoff disease

Disease definition

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.

ORPHA:796

Classification level: Disorder
  • Synonym(s):
    • GM2 gangliosidosis 0 variant
    • Hexosaminidases A and B deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: E75.0
  • ICD-11: 5C56.00
  • OMIM: 268800
  • UMLS: C0036161
  • MeSH: D012497
  • GARD: 2521  7604
  • MedDRA: -

Summary

Epidemiology

Prevalence in Europe is about 1/130 000.

Clinical description

The clinical picture is identical to that of Tay-Sachs disease, with startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. Patients may have a doll-like face, hepatosplenomegaly and recurring respiratory tract infections. High levels of urinary oligosaccharides are found. Children develop normally during the first 3-6 months of life, after which the disease appears and evolves quickly. In cases with later onset, or in adult cases, signs may be those of spinocerebellous ataxia or dystonia. Intellectual capacities may or may not be affected.

Etiology

It results from hexosaminidase A and B deficiency, linked to an abnormal beta subunit (while Tay-Sachs disease results from hexosaminidase A deficiency caused by an abnormal alpha subunit). This enzymatic defect leads to abnormal GM2 ganglioside storage in neurons and peripheral tissues. The causative gene is located on chromosome 5 (5q13).

Genetic counseling

The condition is an autosomal recessive inherited trait.

Management and treatment

There is no specific treatment available for this disease.

Prognosis

Prognosis is poor, with death usually occurring by age of 4 years.

Expert reviewer(s):  Dr Nicole BAUMANN - Dr J TURPIN - Last update: April 2006

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006) Greek (2006, pdf) Polski (2006, pdf)

Detailed information

General public

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.