A 34-year-old member asked:
what can you tell me about leukodystrophies?
1 doctor answer • 3 doctors weighed in
Dr. Colin Kerranswered
Family Medicine 44 years experience
Leukodystrophy: Metachromatic leukodystrophy (mld) is a genetic disorder that affects nerves, muscles, other organs, and behavior. It slowly gets worse over time.
Mld is usually caused by the lack of an important enzyme called arylsulfatase a. Because this enzyme is missing, chemicals called sulfatides build up in and damage the nervous system, kidneys, gallbladder, and other organs. http://www.ncbi.nlm.nih.gov/p.
5.8k viewsReviewed >2 years ago
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Similar questions
A 41-year-old member asked:
What are the tests for leukodystrophies?
1 doctor answer • 1 doctor weighed in
Dr. Colin Kerranswered
Family Medicine 44 years experience
Leukodystrophy tests: Neurodevelopmental tests demonstrate the following findings in patients with infantile or early juvenile metachromatic leukodystrophy:
•loss of previously achieved developmental milestones
•tremors
•truncal ataxia
•hyperreflexia progressing to hyporeflexia
•hypotonia
•gait abnormalities
•optic atrophy
neurocognitive tests demonstrate other abnormalities.
5.8k viewsAnswered >2 years ago
A 32-year-old member asked:
What are the tests for leukodystrophy?
1 doctor answer • 1 doctor weighed in
Dr. Colin Kerranswered
Family Medicine 44 years experience
Leukodystrophy tests: Neurodevelopmental tests demonstrate the following findings in patients with infantile or early juvenile metachromatic leukodystrophy:
•loss of previously achieved developmental milestones
•tremors
•truncal ataxia
•hyperreflexia progressing to hyporeflexia
•hypotonia
•gait abnormalities
•optic atrophy
neurocognitive tests demonstrate other abnormalities.
5.8k viewsAnswered >2 years ago
A 41-year-old member asked:
What is the treatment for leukodystrophy?
1 doctor answer • 2 doctors weighed in
Dr. Colin Kerranswered
Family Medicine 44 years experience
Leukodystrophy Rx: Treatment
there is no cure for mld. Care focuses on treating the symptoms and preserving the patient's quality of life with physical and occupational therapy.
Research is studying techniques to replace the missing enzyme (arylsulfatase a).
http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0002185/.
5.8k viewsReviewed >2 years ago
A 47-year-old member asked:
Could someone please tell me does leukodystrophy make you feel so tired?
1 doctor answer • 1 doctor weighed in
Dr. Alan Alianswered
Psychiatry 32 years experience
Leukodystrophy: There is decline in general health of child, seizures, loss of vision/speech/hearing, loss or increase muscle tone, and slowing of mental/physical development.
5.7k viewsAnswered >2 years ago
A 35-year-old member asked:
Can you tell me about the disease called leukodystrophy?
1 doctor answer • 1 doctor weighed in
Dr. Ed Friedlanderanswered
Pathology 44 years experience
Lose white matter: There are a group of diseases, mostly genetic, in which the white matter of the brain is selectively damaged. Sometimes the white matter nearest to the outer gray matter is relatively spared, making the motor and sensory problems worse than the cognitive deficits.
4.6k viewsAnswered >2 years ago
90,000 U.S. doctors in 147 specialties are here to answer your questions or offer you advice, prescriptions, and more. Get help now:
Last updated Nov 28, 2017
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