U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cerebellar ataxia and neurosensory deafness

MedGen UID:
395224
Concept ID:
C1859304
Disease or Syndrome
Synonym: Cerebellar Ataxia and Neurosensory Deafness
 
Monarch Initiative: MONDO:0008936
OMIM®: 212850

Clinical features

From HPO
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
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).

Recent clinical studies

Etiology

Schimke RN
Clin Genet 1974;6(5):416-21. doi: 10.1111/j.1399-0004.1974.tb02265.x. PMID: 4434656

Diagnosis

Choi SY, Kee HJ, Park JH, Kim HJ, Kim JS
J Vestib Res 2014;24(5-6):443-51. doi: 10.3233/VES-140524. PMID: 25564087
Schimke RN
Clin Genet 1974;6(5):416-21. doi: 10.1111/j.1399-0004.1974.tb02265.x. PMID: 4434656

Prognosis

Schimke RN
Clin Genet 1974;6(5):416-21. doi: 10.1111/j.1399-0004.1974.tb02265.x. PMID: 4434656

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...