U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dyskinesia with orofacial involvement, autosomal recessive(DSKOR)

MedGen UID:
1794246
Concept ID:
C5562036
Disease or Syndrome
Synonyms: DSKOR; DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE
 
Gene (location): ADCY5 (3q21.1)
 
Monarch Initiative: MONDO:0030625
OMIM®: 619647

Definition

Autosomal recessive dyskinesia with orofacial involvement (DSKOR) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder (summary by Bohlega et al., 2019). [from OMIM]

Clinical features

From HPO
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
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.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Frequent falls
MedGen UID:
163408
Concept ID:
C0850703
Finding
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.

Recent clinical studies

Etiology

Cavallin M, Maillard C, Hully M, Philbert M, Boddaert N, Reilly ML, Nitschké P, Bery A, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):729-732. Epub 2018 May 25 doi: 10.1016/j.ejmg.2018.05.002. PMID: 29758293
Danek A, Jung HH, Melone MA, Rampoldi L, Broccoli V, Walker RH
J Neurol Sci 2005 Mar 15;229-230:171-86. Epub 2005 Jan 7 doi: 10.1016/j.jns.2004.11.024. PMID: 15760637

Diagnosis

Danek A, Jung HH, Melone MA, Rampoldi L, Broccoli V, Walker RH
J Neurol Sci 2005 Mar 15;229-230:171-86. Epub 2005 Jan 7 doi: 10.1016/j.jns.2004.11.024. PMID: 15760637
Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP
Mov Disord 2003 Apr;18(4):403-7. doi: 10.1002/mds.10361. PMID: 12671946

Supplemental Content