About: MERRF syndrome   Sponge Permalink

An Entity of Type : owl:Thing, within Data Space : 134.155.108.49:8890 associated with source dataset(s)

However MERRF presents with symptoms varying greatly from patient to patient as the number of mitochondria with the defect in a given egg cell varies greatly from patient to patient. It is perfectly possible for some of the mitochondria in the cell to be perfectly normal while others carry the dysfunctional mutation. As a result, the symptoms generally only progress as a patient ages and more of the defective mitochondria are produced.

AttributesValues
rdfs:label
  • MERRF syndrome
rdfs:comment
  • However MERRF presents with symptoms varying greatly from patient to patient as the number of mitochondria with the defect in a given egg cell varies greatly from patient to patient. It is perfectly possible for some of the mitochondria in the cell to be perfectly normal while others carry the dysfunctional mutation. As a result, the symptoms generally only progress as a patient ages and more of the defective mitochondria are produced.
sameAs
dcterms:subject
mortalityrate
  • Low
symptom
  • Myoclonic epilepsy, short stature, hearing loss, acidosis, intolerance for exercise, poor night vision
dbkwik:house/prope...iPageUsesTemplate
Appearances
Name
  • MERRF syndrome
Type
treatment
Cause
  • Inheretance of defective mitochondrial DNA from mother.
abstract
  • However MERRF presents with symptoms varying greatly from patient to patient as the number of mitochondria with the defect in a given egg cell varies greatly from patient to patient. It is perfectly possible for some of the mitochondria in the cell to be perfectly normal while others carry the dysfunctional mutation. As a result, the symptoms generally only progress as a patient ages and more of the defective mitochondria are produced. MERRF is not dangerous, but it can be dehabilitating and is very difficult to treat. Generally, the symptoms of the disease are treated (such as anti-seizure medication). There are drug therapies, but they are of limited and uncertain effectiveness.
is diagnosis of
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