Tay-Sachs Disease
Tay-Sachs Disease
This is an infrequent hereditary disorder. It results from the absence of an enzyme which has role in oxidation of fatty substances. Particularly gangliosides, increase in concentration in the brain of child at toxic levels and affect the normal functioning of brain. This complication lead to blindness, paralysis or sometimes death.
Symptoms
Symptoms usually appears at about 6 months of age and include:
- Loss of motor skills like turning over, crawling and sitting
- In response of loud noises baby has exaggerated reaction
- Seizures
- Cherry red spots in the eyes on examination
- Loss of vision and hearing
- Problematic movement
Causes
This condition is a genetic disorder that is pass on hereditary from parents to children. It is usually an autosomal recessive disorder which occur when both parents have defected gene and that is passed to baby.
Diagnosis
Diagnosis of Tay-sachs disease depends upon detailed medical history and complete general physical examination of the patient. Other tests include: blood tests for checking the level of hexosaminidase, an enzyme. It’s level is low or absent in this condition.
Treatment
There’s no proper cure to treat this condition. However, few managements can be given to ease the condition.
- Medications are prescribed like anti-seizure medications.
- Respiratory care
- Physical therapy
- Feeding tubes to aid in swallowing.