U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Epilepsy, progressive myoclonic, with sensory ataxic neuropathy

MedGen UID:
909815
•Concept ID:
C4225440
•
Disease or Syndrome
Synonym: EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY
 
OMIM®: 607459

Recent clinical studies

Diagnosis

Patient homozygous for a recessive POLG mutation presents with features of MERRF.
Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C
Neurology 2003 Dec 23;61(12):1811-3. doi: 10.1212/01.wnl.0000098997.23471.65. PMID: 14694057
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.
van Domburg PH, Gabreëls-Festen AA, Gabreëls FJ, de Coo R, Ruitenbeek W, Wesseling P, ter Laak H
Brain 1996 Jun;119 ( Pt 3):997-1010. doi: 10.1093/brain/119.3.997. PMID: 8673507

Prognosis

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.
van Domburg PH, Gabreëls-Festen AA, Gabreëls FJ, de Coo R, Ruitenbeek W, Wesseling P, ter Laak H
Brain 1996 Jun;119 ( Pt 3):997-1010. doi: 10.1093/brain/119.3.997. PMID: 8673507

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • OMIM
      Related records in OMIM
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...