Sandhoff disease: clinical features
Evidence-based neurology checklist on sandhoff disease: clinical features: Cerebral features Macrocephaly Psychomotor retardation Dysarthria Spasticity Progressive cerebellar ataxia Epilepsy: tonic clonic and myoclonic Depression Apathy Blindness Macular cherry-red spot Peripheral features…
Cerebral features
- Macrocephaly
- Psychomotor retardation
- Dysarthria
- Spasticity
- Progressive cerebellar ataxia
- Epilepsy: tonic clonic and myoclonic
- Depression
- Apathy
- Blindness
- Macular cherry-red spot
Peripheral features
Differential diagnosis
References
- Thomas PK, Young E, King RH. Sandhoff disease mimicking adult-onset bulbospinal neuronopathy. JNNP 1989; 52:1103-1106.
- Maegawa GH, Stockley T, Tropak M, et al. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics 2006; 118:e1550-e1562.
- Gomez-Brouchet A, Cintas P, Lagier E, et al. Adult Sandhoff disease presenting with chronic diarrhoea. J Inherit Metab Dis 1999; 22:187-188.
