INFORMATION ON GANGLIOSIDOSES

Gangliosidoses may be defined as a pair of inherited metabolic diseases which is result of lack of the different proteins needed to break down fatty substances called lipids in human body. Large amount of lipid materials developed to harmful levels in the central and peripheral nervous systems, particularly in nerve cells.

CAUSES OF GANGLIOSIDOSES

The various factors which leads to the development of gangliosidoses are:-

1. Mutation in gene.
2. Deficiency of beta-galactosidase.

SYMPTOMS OF GANGLIOSIDOSES

The various symptoms shown by subjects suffering with gangliosidoses are:-

1. Neurodegeneration.
2. Seizures.
3. Liver and spleen enlargement.
4. Skeletal irregularities.
5. Joint stiffness.
6. Muscle weakness.
7. Development of cherry-red spots in the eye.
8. Children may be deaf and blind by age 1.
9. Mental deterioration.
10. Progressive loss of hearing.
11. Difficulty in swallowing.

DIAGNOSIS OF GANGLIOSIDOSES

Clinically gangliosidoses can be identified by following test:-
1. DNA diagnostic.
2. CT scan.
3. MRI.
4. Electromyography.

TREATMENT OF GANGLIOSIDOSES

So far there is no specific treatment available for the treatment of gangliosidoses but seizures symptoms can be controlled by anticonvulsants. Even though some supportive treatments available which includes intake of proper nutrition and hydration.