Sandhoff disease (Q101741): Difference between revisions
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A doença de Sandhoff é um distúrbio de depósito lisossomal da família da gangliosidose GM2 e é caracterizada por degeneração do sistema nervoso central, perda de visão precoce, deterioração motora e mental progressiva, macrocefalia e manchas vermelho-cereja na mácula. Os pacientes podem ter rosto de boneca, hepatoesplenomegalia e infecções recorrentes do trato respiratório. | |||
| description / en | description / en | ||
Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration, 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. | |||
Revision as of 18:35, 16 August 2026
Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration, 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_708581915 |
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| English | Sandhoff disease |
Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration, 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. |
