U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ataxia with myoclonic epilepsy and presenile dementia

MedGen UID:
347924
Concept ID:
C1859646
Disease or Syndrome
Synonym: Ataxia with Myoclonic Epilepsy and Presenile Dementia
 
Monarch Initiative: MONDO:0008836
OMIM®: 208700

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Generalized myoclonic seizure
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

Recent clinical studies

Etiology

Leitão-Rocha A, Guedes-Dias P, Pinho BR, Oliveira JM
Curr Med Chem 2015;22(20):2458-67. doi: 10.2174/0929867322666150209160317. PMID: 25666789
Lance JW
Adv Neurol 1986;43:33-55. PMID: 3080851
Stam FC, Wigboldus JM, Bots GT
J Am Geriatr Soc 1980 May;28(5):237-40. doi: 10.1111/j.1532-5415.1980.tb00528.x. PMID: 6245119

Diagnosis

Procaccio V, Bris C, Chao de la Barca JM, Oca F, Chevrollier A, Amati-Bonneau P, Bonneau D, Reynier P
Rev Neurol (Paris) 2014 May;170(5):390-400. Epub 2014 May 1 doi: 10.1016/j.neurol.2014.03.005. PMID: 24792485
Elble RJ
Mov Disord 1991;6(4):324-9. doi: 10.1002/mds.870060410. PMID: 1758450

Therapy

Procaccio V, Bris C, Chao de la Barca JM, Oca F, Chevrollier A, Amati-Bonneau P, Bonneau D, Reynier P
Rev Neurol (Paris) 2014 May;170(5):390-400. Epub 2014 May 1 doi: 10.1016/j.neurol.2014.03.005. PMID: 24792485

Clinical prediction guides

Graeber MB, Müller U
J Neurol Sci 1998 Jan 8;153(2):251-63. doi: 10.1016/s0022-510x(97)00295-5. PMID: 9511882
Wallace DC, Lott MT, Shoffner JM, Brown MD
J Inherit Metab Dis 1992;15(4):472-9. doi: 10.1007/BF01799605. PMID: 1528007
Elble RJ
Mov Disord 1991;6(4):324-9. doi: 10.1002/mds.870060410. PMID: 1758450

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...