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Metachromatic leukodystrophy - Coggle Diagram
Metachromatic leukodystrophy
Definition
An inherited neuro metabolic disorder that affects the brain especially the white matter.
Pathophysiology
It is a metabolic disorder that affects the growth or development of myelin, the fancy covering which acts as an insulator around nerve fibres throughout the central and peripheral nervous system.
It involves cerebroside sulphate accumulation.
Like most enzyme deficiencies it has an autosomal recessive inheritance pattern.
This gradually affect the nervous system functions such as motor skills, sensations, thinking and motor skills, vision and hearing.
Clinical manifestations
Problems in nerve function.
Numbness in some of the parts of the body.
Irritability.
Decrease mental function
Difficulty in speaking and swallowing.
Frequent falls.
Decreased muscle tone.
Disturbed vision.
Incontinences
Nursing care plan
Problem
Unable to see properly.
Easily irritable
Unable to feel some parts of the body.
Unable to speak and swallow.
Mental disturbances
Nursing diagnosis
Decreased mental function.
Irritability
Disturbed vision.
Numbness in some parts of the body.
Incontinence.
Nursing Interventions
Bone marrow transplantation may help in slowing the progression of the disease.
Physical therapy is needed to maintain muscle strength and mobility.
Occupational therapy is needed for improvement of speech and quality of life.
Assistance in nutrition to help one cope with the swallowing and eating problems.
Food supplements may be used in some cases.
Diagnostic Studies
Blood enzyme test is done to test levels of arysulfatase A enzyme.
Nerve conduction test is also done to measure electrical impulses through nerves and muscles and look for nerve damage.
Magnetic resonance imaging is also done to look for buildup of sulfatides in the brain.
Genetic test is also done to look for mutations associated with the disease it may also be done as part of the prenatal testing when a woman is pregnant.