Tay-Sachs disease: childhood and juvenile onset types
Evidence-based neurology checklist on tay-sachs disease: childhood and juvenile onset types: Childhood-onset type Initial normal development Onset at around 6 months Developmental delay Hypotonia Mental retardation Seizures Visual failure Cherry-red spot on fundi Inability to hold the head up…
Childhood-onset type
- Initial normal development
- Onset at around 6 months
- Developmental delay
- Hypotonia
- Mental retardation
- Seizures
- Visual failure
- Cherry-red spot on fundi
- Inability to hold the head up
- Inability to sit unsupported
- Eye movement abnormalities
- Hypomyelination
- The life expectancy is about 3 years
Juvenile-onset type
Synonym
References
- Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245-257.
- Lew RM, Burnett L, Proos AL, Delatycki MB. Tay-Sachs disease: current perspectives from Australia. Appl Clin Genet 2015; 8:19-25.
- Shapiro BE, Logigian EL, Kolodny EH, Pastores GM. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve 2008; 38:1012-1015.
- Picache JA, Zheng W, Chen CZ. Therapeutic strategies For Tay-Sachs disease. Front Pharmacol 2022; 13:906647.
- Rucker JC, Shapiro BE, Han YH, Kumar AN, Garbutt S, Keller EL, Leigh RJ. Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS). Neurology 2004; 63:1918-1926.
