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Neurodevelopmental disorder with hyperkinetic movements and dyskinesia(NEDHYD)

MedGen UID:
1794248
Concept ID:
C5562038
Disease or Syndrome
Synonyms: NEDHYD; NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA
 
Gene (location): ADCY5 (3q21.1)
 
Monarch Initiative: MONDO:0859211
OMIM®: 619651

Definition

Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders (summary by Okamoto et al., 2021 and Kaiyrzhanov et al., 2021). [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.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
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.
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
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.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Agitation
MedGen UID:
88447
Concept ID:
C0085631
Sign or Symptom
A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Compulsive behaviors
MedGen UID:
109373
Concept ID:
C0600104
Mental or Behavioral Dysfunction
Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
Reduced eye contact
MedGen UID:
303190
Concept ID:
C1445953
Finding
A reduced frequency or duration of eye contact.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Delayed ability to sit
MedGen UID:
1368737
Concept ID:
C4476710
Finding
A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
Delayed ability to roll over
MedGen UID:
1718874
Concept ID:
C5397980
Finding
Delayed achievement of the ability to roll front to back and back to front.
Thin corpus callosum
MedGen UID:
1785336
Concept ID:
C5441562
Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.

Professional guidelines

PubMed

Berardelli I, Pasquini M, Conte A, Bologna M, Berardelli A, Fabbrini G
Expert Rev Neurother 2019 Jan;19(1):55-65. Epub 2018 Dec 10 doi: 10.1080/14737175.2019.1555475. PMID: 30501439
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Drugs 2018 Apr;78(5):525-541. doi: 10.1007/s40265-018-0874-x. PMID: 29484607
Paton DM
Drugs Today (Barc) 2017 Feb;53(2):89-102. doi: 10.1358/dot.2017.53.2.2589164. PMID: 28387387

Recent clinical studies

Etiology

Abdelmoumen I, Jimenez S, Valencia I, Melvin J, Legido A, Diaz-Diaz MM, Griffith C, Massingham LJ, Yelton M, Rodríguez-Hernández J, Schnur RE, Walsh LE, Cristancho AG, Bergqvist CA, McWalter K, Mathieson I, Belbin GM, Kenny EE, Ortiz-Gonzalez XR, Schneider MC
J Child Neurol 2021 Feb;36(2):93-98. Epub 2020 Sep 15 doi: 10.1177/0883073820953001. PMID: 32928027Free PMC Article
Pietracupa S, Bruno E, Cavanna AE, Falla M, Zappia M, Colosimo C
J Neurol Sci 2015 Nov 15;358(1-2):9-21. Epub 2015 Sep 2 doi: 10.1016/j.jns.2015.08.1544. PMID: 26428309
Ching H, Pringsheim T
Cochrane Database Syst Rev 2012 May 16;(5):CD009043. doi: 10.1002/14651858.CD009043.pub2. PMID: 22592735
Taylor EA
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Am J Dis Child 1975 Jul;129(7):783-9. doi: 10.1001/archpedi.1975.02120440009003. PMID: 1146773

Diagnosis

Nilles C, Hartmann A, Roze E, Martino D, Pringsheim T
Handb Clin Neurol 2023;196:457-474. doi: 10.1016/B978-0-323-98817-9.00002-8. PMID: 37620085
Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2023;13:8. Epub 2023 Mar 28 doi: 10.5334/tohm.758. PMID: 37008994Free PMC Article
Srinivasan R, Ben-Pazi H, Dekker M, Cubo E, Bloem B, Moukheiber E, Gonzalez-Santos J, Guttman M
Tremor Other Hyperkinet Mov (N Y) 2020;10 Epub 2020 Feb 17 doi: 10.7916/tohm.v0.698. PMID: 32195039Free PMC Article
Kenney C, Kuo SH, Jimenez-Shahed J
Am Fam Physician 2008 Mar 1;77(5):651-8. PMID: 18350763
Taylor EA
Br J Psychiatry 1986 Nov;149:562-73. doi: 10.1192/bjp.149.5.562. PMID: 3545357

Therapy

Truong DD, Frei K
Parkinsonism Relat Disord 2019 Feb;59:146-150. Epub 2018 Nov 28 doi: 10.1016/j.parkreldis.2018.11.025. PMID: 30528171
Kenney C, Kuo SH, Jimenez-Shahed J
Am Fam Physician 2008 Mar 1;77(5):651-8. PMID: 18350763
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South Med J 1976 Feb;69(2):161-3. doi: 10.1097/00007611-197602000-00010. PMID: 1251235
Rie HE
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J Child Psychol Psychiatry 1975 Apr;16(2):169-72. doi: 10.1111/j.1469-7610.1975.tb01266.x. PMID: 1055116

Prognosis

Nilles C, Hartmann A, Roze E, Martino D, Pringsheim T
Handb Clin Neurol 2023;196:457-474. doi: 10.1016/B978-0-323-98817-9.00002-8. PMID: 37620085
Lenka A, Jankovic J
Tremor Other Hyperkinet Mov (N Y) 2023;13:8. Epub 2023 Mar 28 doi: 10.5334/tohm.758. PMID: 37008994Free PMC Article
Baizabal-Carvallo JF, Jankovic J
J Neural Transm (Vienna) 2021 Aug;128(8):1177-1183. Epub 2021 Jul 23 doi: 10.1007/s00702-021-02386-0. PMID: 34302221
Gomez R
J Atten Disord 2016 Apr;20(4):325-34. Epub 2013 Apr 29 doi: 10.1177/1087054713485206. PMID: 23628968
Hacker LE, Park JM, Timpano KR, Cavitt MA, Alvaro JL, Lewin AB, Murphy TK, Storch EA
J Atten Disord 2016 Jul;20(7):617-26. Epub 2012 Aug 24 doi: 10.1177/1087054712455845. PMID: 22923782

Clinical prediction guides

Wong LC, Huang CH, Chou WY, Hsu CJ, Tsai WC, Lee WT
Autism Res 2023 May;16(5):953-966. Epub 2023 Mar 21 doi: 10.1002/aur.2916. PMID: 36942618
Baizabal-Carvallo JF, Jankovic J
J Neural Transm (Vienna) 2021 Aug;128(8):1177-1183. Epub 2021 Jul 23 doi: 10.1007/s00702-021-02386-0. PMID: 34302221
Gomez R
J Atten Disord 2016 Apr;20(4):325-34. Epub 2013 Apr 29 doi: 10.1177/1087054713485206. PMID: 23628968
Sagvolden T, Russell VA, Aase H, Johansen EB, Farshbaf M
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Recent systematic reviews

Rizzo G, Martino D, Avanzino L, Avenanti A, Vicario CM
Soc Neurosci 2023 Dec;18(6):331-354. Epub 2023 Aug 21 doi: 10.1080/17470919.2023.2248687. PMID: 37580305
Hirsch LE, Pringsheim T
Cochrane Database Syst Rev 2016 Jun 26;2016(6):CD009043. doi: 10.1002/14651858.CD009043.pub3. PMID: 27344135Free PMC Article
Pietracupa S, Bruno E, Cavanna AE, Falla M, Zappia M, Colosimo C
J Neurol Sci 2015 Nov 15;358(1-2):9-21. Epub 2015 Sep 2 doi: 10.1016/j.jns.2015.08.1544. PMID: 26428309
Ching H, Pringsheim T
Cochrane Database Syst Rev 2012 May 16;(5):CD009043. doi: 10.1002/14651858.CD009043.pub2. PMID: 22592735
Coulter MK, Dean ME
Cochrane Database Syst Rev 2007 Oct 17;(4):CD005648. doi: 10.1002/14651858.CD005648.pub2. PMID: 17943868

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