Action myoclonus-renal failure syndrome

Description: Action myoclonus-renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. Although the condition name refers to kidney disease, not everyone with the condition has problems with kidney function . The ...1

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Types of Action myoclonus-renal failure syndrome

Some types of this condition may include:2 Types of Action myoclonus-renal failure syndrome:

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Genetics of Action myoclonus-renal failure syndrome

Genetic Changes: AMRF syndrome is caused by mutations in the SCARB2 gene. This gene provides instructions for making the LIMP-2 protein, which transports an enzyme called beta-glucocerebrosidase to cellular structures called lysosomes. Lysosomes are specialized compartments that digest ...3

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Names and Terminology

Other Names for This Condition

  • action myoclonus-renal failure syndrome
  • action myoclonus-renal failure syndrome
  • AMRF
  • epilepsy, progressive myoclonic 4, with or without renal failure ...
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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ action-myoclonus-renal-failure-syndrome
  2. Source: NCI Thesaurus
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ action-myoclonus-renal-failure-syndrome

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