This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Action myoclonus–renal failure syndrome (AMRF) is an autosomal recessive disorder first described in 4 French Canadian patients, followed by a recent description of 15 cases from various countries.1,2 The condition independently affects the kidney, with focal glomerulosclerosis causing renal failure and the brain causing progressive myoclonus epilepsy (PME) or progressive myoclonic ataxia (PMA).3,4 Tremor is often an early feature. The diagnosis of tremor and myoclonus in patients with severe renal disease is challenging. Here we highlight the evolution of tremor in this syndrome in two new cases and emphasize problems in early diagnosis.
Case reports.
Case 1.
Case 1 is an Australian man of English ancestry with unrelated parents (figure). He was well until age 20 when end-stage renal failure developed, after a 3-month history of anorexia, nausea, and lethargy. Renal ultrasound demonstrated small kidneys; the etiology of renal failure was not established and renal biopsy not performed. He was treated with dialysis.
Figure. Pedigrees of the two subjects (filled symbols) with action …
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Topics Discussed
Alert Me
Recommended articles
Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Progressive myoclonus epilepsy in young adults with neuropathologic features of Alzheimer's disease
Progressive myoclonic epilepsies