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Neurodevelopmental disorder with or without variable movement or behavioral abnormalities(NEDMAB)

MedGen UID:
1802087
Concept ID:
C5676908
Disease or Syndrome
Synonym: NEDMAB
 
Gene (location): KCNN2 (5q22.3)
 
Monarch Initiative: MONDO:0859225
OMIM®: 619725

Definition

Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms. Movement abnormalities have onset in childhood or adolescence. Other variable features include autism spectrum disorder or autistic features and epilepsy. [from OMIM]

Clinical features

From HPO
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.
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).
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
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.
Psychotic disorder
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Panic attack
MedGen UID:
39497
Concept ID:
C0086769
Mental or Behavioral Dysfunction
A sudden episode of intense fear in a situation where there is no danger or apparent cause.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Resting tremor
MedGen UID:
66697
Concept ID:
C0234379
Sign or Symptom
A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.
Parkinsonian disorder
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Nocturnal seizures
MedGen UID:
581539
Concept ID:
C0393719
Disease or Syndrome
Seizures that occur while the affected individual is sleeping.
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.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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.
Motor tics
MedGen UID:
199761
Concept ID:
C0751900
Sign or Symptom
Movement-based tics affecting discrete muscle groups.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Abnormal periventricular white matter morphology
MedGen UID:
435926
Concept ID:
C2673431
Finding
A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Dilated third ventricle
MedGen UID:
870494
Concept ID:
C4024941
Finding
An increase in size of the third ventricle.
Intention tremor
MedGen UID:
1642960
Concept ID:
C4551520
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Cogwheel rigidity
MedGen UID:
57469
Concept ID:
C0151564
Sign or Symptom
A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.

Professional guidelines

PubMed

Faraone SV, Banaschewski T, Coghill D, Zheng Y, Biederman J, Bellgrove MA, Newcorn JH, Gignac M, Al Saud NM, Manor I, Rohde LA, Yang L, Cortese S, Almagor D, Stein MA, Albatti TH, Aljoudi HF, Alqahtani MMJ, Asherson P, Atwoli L, Bölte S, Buitelaar JK, Crunelle CL, Daley D, Dalsgaard S, Döpfner M, Espinet S, Fitzgerald M, Franke B, Gerlach M, Haavik J, Hartman CA, Hartung CM, Hinshaw SP, Hoekstra PJ, Hollis C, Kollins SH, Sandra Kooij JJ, Kuntsi J, Larsson H, Li T, Liu J, Merzon E, Mattingly G, Mattos P, McCarthy S, Mikami AY, Molina BSG, Nigg JT, Purper-Ouakil D, Omigbodun OO, Polanczyk GV, Pollak Y, Poulton AS, Rajkumar RP, Reding A, Reif A, Rubia K, Rucklidge J, Romanos M, Ramos-Quiroga JA, Schellekens A, Scheres A, Schoeman R, Schweitzer JB, Shah H, Solanto MV, Sonuga-Barke E, Soutullo C, Steinhausen HC, Swanson JM, Thapar A, Tripp G, van de Glind G, van den Brink W, Van der Oord S, Venter A, Vitiello B, Walitza S, Wang Y
Neurosci Biobehav Rev 2021 Sep;128:789-818. Epub 2021 Feb 4 doi: 10.1016/j.neubiorev.2021.01.022. PMID: 33549739Free PMC Article
Wolraich ML, Hagan JF Jr, Allan C, Chan E, Davison D, Earls M, Evans SW, Flinn SK, Froehlich T, Frost J, Holbrook JR, Lehmann CU, Lessin HR, Okechukwu K, Pierce KL, Winner JD, Zurhellen W; SUBCOMMITTEE ON CHILDREN AND ADOLESCENTS WITH ATTENTION-DEFICIT/HYPERACTIVE DISORDER
Pediatrics 2019 Oct;144(4) doi: 10.1542/peds.2019-2528. PMID: 31570648Free PMC Article
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article

Recent clinical studies

Etiology

Tse ACY
J Autism Dev Disord 2020 Nov;50(11):4191-4198. doi: 10.1007/s10803-020-04418-2. PMID: 32130593
Aran A, Cassuto H, Lubotzky A, Wattad N, Hazan E
J Autism Dev Disord 2019 Mar;49(3):1284-1288. doi: 10.1007/s10803-018-3808-2. PMID: 30382443
Yorke I, White P, Weston A, Rafla M, Charman T, Simonoff E
J Autism Dev Disord 2018 Oct;48(10):3393-3415. doi: 10.1007/s10803-018-3605-y. PMID: 29777471Free PMC Article
Sayal K, Prasad V, Daley D, Ford T, Coghill D
Lancet Psychiatry 2018 Feb;5(2):175-186. Epub 2017 Oct 9 doi: 10.1016/S2215-0366(17)30167-0. PMID: 29033005
O'Neill S, Rajendran K, Mahbubani SM, Halperin JM
Curr Psychiatry Rep 2017 Oct 30;19(12):95. doi: 10.1007/s11920-017-0853-z. PMID: 29082443Free PMC Article

Diagnosis

Baraskewich J, von Ranson KM, McCrimmon A, McMorris CA
Autism 2021 Aug;25(6):1505-1519. Epub 2021 Mar 2 doi: 10.1177/1362361321995631. PMID: 33653157Free PMC Article
Morris-Rosendahl DJ, Crocq MA
Dialogues Clin Neurosci 2020 Mar;22(1):65-72. doi: 10.31887/DCNS.2020.22.1/macrocq. PMID: 32699506Free PMC Article
Sayal K, Prasad V, Daley D, Ford T, Coghill D
Lancet Psychiatry 2018 Feb;5(2):175-186. Epub 2017 Oct 9 doi: 10.1016/S2215-0366(17)30167-0. PMID: 29033005
O'Neill S, Rajendran K, Mahbubani SM, Halperin JM
Curr Psychiatry Rep 2017 Oct 30;19(12):95. doi: 10.1007/s11920-017-0853-z. PMID: 29082443Free PMC Article
Doernberg E, Hollander E
CNS Spectr 2016 Aug;21(4):295-9. Epub 2016 Jul 1 doi: 10.1017/S1092852916000262. PMID: 27364515

Therapy

Lee YC, Chen CR, Lin KC
Int J Environ Res Public Health 2022 Nov 17;19(22) doi: 10.3390/ijerph192215198. PMID: 36429915Free PMC Article
Dias-de Freitas F, Pimenta S, Soares S, Gonzaga D, Vaz-Matos I, Prior C
Rev Neurol 2022 Oct 1;75(7):189-197. doi: 10.33588/rn.7507.2022123. PMID: 36169325Free PMC Article
Yang J, He X, Qian L, Zhao B, Fan Y, Gao F, Yan B, Zhu F, Ma X
EBioMedicine 2022 Apr;78:103948. Epub 2022 Mar 17 doi: 10.1016/j.ebiom.2022.103948. PMID: 35306338Free PMC Article
Thapar A, Cooper M
Lancet 2016 Mar 19;387(10024):1240-50. Epub 2015 Sep 17 doi: 10.1016/S0140-6736(15)00238-X. PMID: 26386541
Hsiao EY, McBride SW, Hsien S, Sharon G, Hyde ER, McCue T, Codelli JA, Chow J, Reisman SE, Petrosino JF, Patterson PH, Mazmanian SK
Cell 2013 Dec 19;155(7):1451-63. Epub 2013 Dec 5 doi: 10.1016/j.cell.2013.11.024. PMID: 24315484Free PMC Article

Prognosis

Paulich KN, Ross JM, Lessem JM, Hewitt JK
PLoS One 2021;16(9):e0256591. Epub 2021 Sep 8 doi: 10.1371/journal.pone.0256591. PMID: 34496002Free PMC Article
Guilé JM, Tissot C, Boissel L
Handb Clin Neurol 2020;174:173-181. doi: 10.1016/B978-0-444-64148-9.00013-2. PMID: 32977876
Yorke I, White P, Weston A, Rafla M, Charman T, Simonoff E
J Autism Dev Disord 2018 Oct;48(10):3393-3415. doi: 10.1007/s10803-018-3605-y. PMID: 29777471Free PMC Article
O'Neill S, Rajendran K, Mahbubani SM, Halperin JM
Curr Psychiatry Rep 2017 Oct 30;19(12):95. doi: 10.1007/s11920-017-0853-z. PMID: 29082443Free PMC Article
Stoodley CJ
Cerebellum 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. PMID: 26298473Free PMC Article

Clinical prediction guides

Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C
Am J Hum Genet 2020 Sep 3;107(3):544-554. Epub 2020 Jul 29 doi: 10.1016/j.ajhg.2020.06.019. PMID: 32730804Free PMC Article
Morris-Rosendahl DJ, Crocq MA
Dialogues Clin Neurosci 2020 Mar;22(1):65-72. doi: 10.31887/DCNS.2020.22.1/macrocq. PMID: 32699506Free PMC Article
Yorke I, White P, Weston A, Rafla M, Charman T, Simonoff E
J Autism Dev Disord 2018 Oct;48(10):3393-3415. doi: 10.1007/s10803-018-3605-y. PMID: 29777471Free PMC Article
O'Neill S, Rajendran K, Mahbubani SM, Halperin JM
Curr Psychiatry Rep 2017 Oct 30;19(12):95. doi: 10.1007/s11920-017-0853-z. PMID: 29082443Free PMC Article
Pelsser LM, Frankena K, Toorman J, Rodrigues Pereira R
PLoS One 2017;12(1):e0169277. Epub 2017 Jan 25 doi: 10.1371/journal.pone.0169277. PMID: 28121994Free PMC Article

Recent systematic reviews

Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S
Syst Rev 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. PMID: 36642718Free PMC Article
Lee YC, Chen CR, Lin KC
Int J Environ Res Public Health 2022 Nov 17;19(22) doi: 10.3390/ijerph192215198. PMID: 36429915Free PMC Article
Silva EAD Junior, Medeiros WMB, Torro N, Sousa JMM, Almeida IBCM, Costa FBD, Pontes KM, Nunes ELG, Rosa MDD, Albuquerque KLGD
Trends Psychiatry Psychother 2022 Jun 13;44:e20200149. doi: 10.47626/2237-6089-2020-0149. PMID: 34043900Free PMC Article
Głąbska D, Guzek D, Groele B, Gutkowska K
Rocz Panstw Zakl Hig 2020;71(1):15-25. doi: 10.32394/rpzh.2019.0097. PMID: 32227780
Sayal K, Prasad V, Daley D, Ford T, Coghill D
Lancet Psychiatry 2018 Feb;5(2):175-186. Epub 2017 Oct 9 doi: 10.1016/S2215-0366(17)30167-0. PMID: 29033005

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