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Metachromatic Leukodystrophy

INTRODUCTION TO METACHROMATIC LEUKODYSTROPHY:-
Metachromatic Leukodystrophy may be defined as a genetic disorder that affects nerves, muscles, and other organs. Metachromatic Leukodystrophy gets progressively worse over time.
CAUSES OF METACHROMATIC LEUKODYSTROPHY:-
The main reasons behind the development of Metachromatic Leukodystrophy are:-

1. Mutation in the gene.
2. Lack of an important enzyme called arylsulfatase.
SYMPTOMS OF METACHROMATIC LEUKODYSTROPHY:-
1. Irritability.
2. decreased muscle tone.
3. abnormal muscle movements.
4. decreased intellectual functioning.
5. speech difficulties.
6. feeding difficulties.
7. swallowing difficulty.
8. abnormal nerve function.
9. seizures.
DIAGNOSIS OF METACHROMATIC LEUKODYSTROPHY:-
Clinically Metachromatic Leukodystrophy can be diagnosed by:-
1. nerve velocity conduction studies
2. MRI
3. CT scan
4. lumbar puncture.
5. nerve biopsy.
6. Urine test.
7. Blood test
TREATMENT OF METACHROMATIC LEUKODYSTROPHY:-
To reduce the patient's symptoms and relieve pain of Metachromatic Leukodystrophy a number of prescription medications may be prescribed, such as:
1. Muscle relaxants
2. Seizure medications
3. Psychiatric medications
4. Pain medications
5. Surgery
Orthopedic surgeons can perform surgery to relieve the contractures. As Metachromatic Leukodystrophy progresses, the patient may receive physical therapy to stimulate the muscles and joints, such as physically moving the affected body parts or using hot baths.

 

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