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Incoordination

MedGen UID:
141714
Concept ID:
C0520966
Finding
Synonym: lack of coordination
SNOMED CT: Lack of coordination (281016006); Incoordination (281016006); Abnormal coordination (302289002); Coordination problem (302289002)
 
HPO: HP:0002311

Conditions with this feature

Familial dysautonomia
MedGen UID:
41678
Concept ID:
C0013364
Disease or Syndrome
Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.
Adrenoleukodystrophy
MedGen UID:
57667
Concept ID:
C0162309
Disease or Syndrome
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention-deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within six months to two years. Most individuals have impaired adrenocortical function at the time that neurologic disturbances are first noted. Adrenomyeloneuropathy (AMN) manifests most commonly in an individual in his twenties or middle age as progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops by middle age. More than 20% of female carriers develop mild-to-moderate spastic paraparesis in middle age or later. Adrenal function is usually normal.
Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Charcot-Marie-Tooth disease X-linked dominant 1
MedGen UID:
98290
Concept ID:
C0393808
Disease or Syndrome
GJB1 disorders are typically characterized by peripheral motor and sensory neuropathy with or without fixed CNS abnormalities and/or acute, self-limited episodes of transient neurologic dysfunction (especially weakness and dysarthria). Peripheral neuropathy typically manifests in affected males between ages five and 25 years. Although both men and women are affected, manifestations tend to be less severe in women, some of whom may remain asymptomatic. Less commonly, initial manifestations in some affected individuals are stroke-like episodes (acute fulminant episodes of reversible CNS dysfunction).
Spinocerebellar ataxia type 5
MedGen UID:
155705
Concept ID:
C0752123
Disease or Syndrome
For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 (164400).
Spinocerebellar ataxia type 6
MedGen UID:
148458
Concept ID:
C0752124
Disease or Syndrome
Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus. Hyperreflexia and extensor plantar responses occur in up to 40%-50%. Basal ganglia signs, including dystonia and blepharospasm, occur in up to 25%. Mentation is generally preserved.
Deficiency of ribose-5-phosphate isomerase
MedGen UID:
220946
Concept ID:
C1291609
Disease or Syndrome
Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
Episodic ataxia type 1
MedGen UID:
318554
Concept ID:
C1719788
Disease or Syndrome
Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other possible associations include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence.
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
MedGen UID:
318633
Concept ID:
C1832466
Disease or Syndrome
ATP1A3-related neurologic disorders represent a clinical continuum in which at least three distinct phenotypes have been delineated: rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, some affected individuals have intermediate phenotypes or only a few features that do not fit well into one of these major phenotypes. RDP has been characterized by: abrupt onset of dystonia over days to weeks with parkinsonism (primarily bradykinesia and postural instability); common bulbar involvement; and absence or minimal response to an adequate trial of L-dopa therapy, with few exceptions. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Rarely, affected individuals have reported a more gradual onset of symptoms over weeks to months. Anxiety, depression, and seizures have been reported. Age of onset ranges from four to 55 years, although a childhood variation of RDP with onset between ages nine and 14 months has been reported. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction develop in the majority of those affected; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is characterized by episodes of ataxic encephalopathy and/or weakness during and after a febrile illness. Onset is between ages six months and four years. Some acute symptoms resolve; progression of sensory losses and severity vary.
Spinocerebellar ataxia type 26
MedGen UID:
373077
Concept ID:
C1836395
Disease or Syndrome
A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly.
Spinocerebellar ataxia type 8
MedGen UID:
332457
Concept ID:
C1837454
Disease or Syndrome
SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened.
Striatonigral degeneration, infantile, mitochondrial
MedGen UID:
374113
Concept ID:
C1839022
Disease or Syndrome
Methylmalonic aciduria and homocystinuria type cblF
MedGen UID:
336373
Concept ID:
C1848578
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Oral sensibility, disturbance of
MedGen UID:
376745
Concept ID:
C1850269
Finding
Dystonia 5
MedGen UID:
342121
Concept ID:
C1851920
Disease or Syndrome
GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur.
Mast syndrome
MedGen UID:
343325
Concept ID:
C1855346
Disease or Syndrome
Mast syndrome (MASTS) is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by Simpson et al., 2003). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MedGen UID:
383829
Concept ID:
C1856058
Disease or Syndrome
Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified (Rosenblatt et al., 1992).
Progressive encephalopathy with leukodystrophy due to DECR deficiency
MedGen UID:
346552
Concept ID:
C1857252
Disease or Syndrome
2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018).
Autosomal recessive spinocerebellar ataxia 2
MedGen UID:
349134
Concept ID:
C1859298
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. Brain imaging shows cerebellar atrophy. Overall, the disorder is non- or slowly progressive, with survival into adulthood (summary by Jobling et al., 2015).
Huntington disease-like 1
MedGen UID:
355137
Concept ID:
C1864112
Disease or Syndrome
Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.
Friedreich ataxia 2
MedGen UID:
356134
Concept ID:
C1865981
Disease or Syndrome
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13.
Multiple sclerosis, susceptibility to
MedGen UID:
358269
Concept ID:
C1868685
Finding
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system (CNS) with various degrees of axonal damage. MS affects mainly young adults with predominance for females. The disorder often leads to substantial disability (summary by Bomprezzi et al., 2003). Genetic Heterogeneity of Susceptibility to Multiple Sclerosis Additional MS susceptibility loci include MS2 (612594) on chromosome 10p15, MS3 (612595) on chromosome 5p13, MS4 (612596) on chromosome 1p36, and MS5 (614810), conferred by variation in the TNFRSF1A gene (191190) on chromosome 12p13.
Spinocerebellar ataxia type 10
MedGen UID:
369786
Concept ID:
C1963674
Disease or Syndrome
Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia have been reported with variable frequencies among different families. Some individuals have cognitive dysfunction, behavioral disturbances, mood disorders, mild pyramidal signs, and peripheral neuropathy. Age of onset ranges from 12 to 48 years.
Pitt-Hopkins syndrome
MedGen UID:
370910
Concept ID:
C1970431
Disease or Syndrome
Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. Speech is significantly delayed and most individuals are nonverbal with receptive language often stronger than expressive language. Other common findings are autism spectrum disorder symptoms, sleep disturbance, stereotypic hand movements, seizures, constipation, and severe myopia.
Spinocerebellar ataxia type 36
MedGen UID:
483339
Concept ID:
C3472711
Disease or Syndrome
Spinocerebellar ataxia-36 (SCA36) is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by Garcia-Murias et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Mitochondrial complex III deficiency nuclear type 2
MedGen UID:
767519
Concept ID:
C3554605
Disease or Syndrome
Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).
Spinocerebellar ataxia type 35
MedGen UID:
854733
Concept ID:
C3888031
Disease or Syndrome
Spinocerebellar ataxia-35 (SCA35) is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Autosomal recessive spinocerebellar ataxia 18
MedGen UID:
863942
Concept ID:
C4015505
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-18 is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability. Brain imaging shows progressive cerebellar atrophy (summary by Hills et al., 2013).
Developmental and epileptic encephalopathy, 33
MedGen UID:
897930
Concept ID:
C4225337
Disease or Syndrome
Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by de Ligt et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Combined oxidative phosphorylation defect type 15
MedGen UID:
1646555
Concept ID:
C4706313
Disease or Syndrome
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.
Parkinsonism-dystonia, infantile, 2
MedGen UID:
1648382
Concept ID:
C4747991
Disease or Syndrome
Infantile-onset parkinsonism-dystonia-2 (PKDYS2) is an autosomal recessive complex infantile-onset neurologic disorder characterized by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. Features of the disorder are consistent with decreased levels of monoamine neurotransmitters, although levels of these in the spinal fluid are normal (summary by Rilstone et al., 2013). For a discussion of genetic heterogeneity of PKDYS, see 613135.
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
MedGen UID:
1648354
Concept ID:
C4748041
Disease or Syndrome
Intellectual disability, autosomal dominant 58
MedGen UID:
1648488
Concept ID:
C4748195
Disease or Syndrome
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
MedGen UID:
1711370
Concept ID:
C5394135
Disease or Syndrome
Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly. The phenotype is highly variable: some patients may show ataxia and some may have seizures (summary by Hu et al., 2019).
DYRK1A-related intellectual disability syndrome
MedGen UID:
1799566
Concept ID:
C5568143
Mental or Behavioral Dysfunction
DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies. The majority of affected individuals function in the moderate-to-severe range of intellectual disability; however, individuals with mild intellectual disability have also been reported. Other medical concerns relate to febrile seizures in infancy; the development of epilepsy with seizures of the atonic, absence, and generalized myoclonic types; short stature; and gastrointestinal problems. Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported.
Charcot-Marie-Tooth disease axonal type 2Z
MedGen UID:
1800448
Concept ID:
C5569025
Disease or Syndrome
Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant axonal peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood. Rare occurrence of global developmental delay with impaired intellectual development or learning difficulties has been observed. In some instances, the same mutation may result in different phenotypic manifestations (CMT2Z or DIGFAN), which highlights the clinical spectrum associated with MORC2 mutations and may render the classification of patients into one or the other disorder challenging (summary by Sevilla et al., 2016, Ando et al., 2017, Guillen Sacoto et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Intellectual disability, autosomal dominant 40
MedGen UID:
1810363
Concept ID:
C5676894
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (NEDHILD) is a rare neurodevelopmental disorder associated with impaired intellectual development, speech and language impairment, microcephaly, seizures, hypotonia, ophthalmologic issues, constipation/gastroesophageal reflux, and behavioral problems, including autism and sleep disturbances (summary by Garrity et al., 2021).
Intellectual developmental disorder, autosomal recessive 79
MedGen UID:
1841189
Concept ID:
C5830553
Disease or Syndrome
Autosomal recessive intellectual developmental disorder-79 (MRT79) is characterized by global developmental delay apparent from infancy. Affected individuals have mildly delayed walking with an ataxic gait and severely impaired intellectual development with poor or absent speech. Additional features may include postnatal microcephaly and dysmorphic features (Van Bergen et al., 2022).

Professional guidelines

PubMed

Saguil A, Farnell Iv EA, Jordan TS
Am Fam Physician 2022 Aug;106(2):173-183. PMID: 35977131
Alves CAPF, Fragoso DC, Gonçalves FG, Marussi VH, Amaral LLFD
Top Magn Reson Imaging 2018 Aug;27(4):275-302. doi: 10.1097/RMR.0000000000000175. PMID: 30086112
Gelfand JM
Handb Clin Neurol 2014;122:269-90. doi: 10.1016/B978-0-444-52001-2.00011-X. PMID: 24507522

Recent clinical studies

Etiology

Kaur M, Bhat A
Phys Ther 2019 Nov 25;99(11):1520-1534. doi: 10.1093/ptj/pzz115. PMID: 31765484Free PMC Article
Jen JC, Wan J
Handb Clin Neurol 2018;155:205-215. doi: 10.1016/B978-0-444-64189-2.00013-5. PMID: 29891059
Buckley E, Mazzà C, McNeill A
Gait Posture 2018 Feb;60:154-163. Epub 2017 Dec 1 doi: 10.1016/j.gaitpost.2017.11.024. PMID: 29220753
Wada JT, Borges-Santos E, Porras DC, Paisani DM, Cukier A, Lunardi AC, Carvalho CR
Int J Chron Obstruct Pulmon Dis 2016;11:2691-2700. Epub 2016 Oct 28 doi: 10.2147/COPD.S114548. PMID: 27822031Free PMC Article
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. PMID: 23538602

Diagnosis

Radmard S, Zesiewicz TA, Kuo SH
Neurol Clin 2023 Feb;41(1):21-44. Epub 2022 Aug 31 doi: 10.1016/j.ncl.2022.05.002. PMID: 36400556Free PMC Article
Rosenthal LS
Continuum (Minneap Minn) 2022 Oct 1;28(5):1409-1434. doi: 10.1212/CON.0000000000001180. PMID: 36222772
Bowley MP, Doughty CT
Med Clin North Am 2019 Mar;103(2):371-382. Epub 2018 Dec 3 doi: 10.1016/j.mcna.2018.10.013. PMID: 30704688
Spencer KA, Brown KA
Semin Speech Lang 2018 Feb;39(1):15-24. Epub 2018 Jan 22 doi: 10.1055/s-0037-1608852. PMID: 29359302
Walker FO
Lancet 2007 Jan 20;369(9557):218-28. doi: 10.1016/S0140-6736(07)60111-1. PMID: 17240289

Therapy

Rissardo JP, Caprara ALF
Prague Med Rep 2020;121(1):5-24. doi: 10.14712/23362936.2020.1. PMID: 32191616
Buckley E, Mazzà C, McNeill A
Gait Posture 2018 Feb;60:154-163. Epub 2017 Dec 1 doi: 10.1016/j.gaitpost.2017.11.024. PMID: 29220753
Wada JT, Borges-Santos E, Porras DC, Paisani DM, Cukier A, Lunardi AC, Carvalho CR
Int J Chron Obstruct Pulmon Dis 2016;11:2691-2700. Epub 2016 Oct 28 doi: 10.2147/COPD.S114548. PMID: 27822031Free PMC Article
Costardi JV, Nampo RA, Silva GL, Ribeiro MA, Stella HJ, Stella MB, Malheiros SV
Rev Assoc Med Bras (1992) 2015 Aug;61(4):381-7. doi: 10.1590/1806-9282.61.04.381. PMID: 26466222
Bultmann U, Pierscianek D, Gizewski ER, Schoch B, Fritsche N, Timmann D, Maschke M, Frings M
Gait Posture 2014;39(1):563-9. Epub 2013 Sep 24 doi: 10.1016/j.gaitpost.2013.09.011. PMID: 24119775

Prognosis

Banazadeh M, Olangian-Tehrani S, Sharifi M, Malek-Ahmadi M, Nikzad F, Doozandeh-Nargesi N, Mohammadi A, Stephens GJ, Shabani M
Curr Med Res Opin 2022 Dec;38(12):2109-2118. Epub 2022 Nov 14 doi: 10.1080/03007995.2022.2141963. PMID: 36305796
Rosenthal LS
Continuum (Minneap Minn) 2022 Oct 1;28(5):1409-1434. doi: 10.1212/CON.0000000000001180. PMID: 36222772
D'Angelo E
Handb Clin Neurol 2018;154:85-108. doi: 10.1016/B978-0-444-63956-1.00006-0. PMID: 29903454
Bultmann U, Pierscianek D, Gizewski ER, Schoch B, Fritsche N, Timmann D, Maschke M, Frings M
Gait Posture 2014;39(1):563-9. Epub 2013 Sep 24 doi: 10.1016/j.gaitpost.2013.09.011. PMID: 24119775
Weber T
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Clinical prediction guides

Saad M, Afsah O, Baz H, El-Regal ME, Abou-Elsaad T
Int J Pediatr Otorhinolaryngol 2021 Nov;150:110900. Epub 2021 Aug 26 doi: 10.1016/j.ijporl.2021.110900. PMID: 34461381
Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L
Cells 2021 Feb 17;10(2) doi: 10.3390/cells10020421. PMID: 33671313Free PMC Article
D'Angelo E
Handb Clin Neurol 2018;154:85-108. doi: 10.1016/B978-0-444-63956-1.00006-0. PMID: 29903454
Sarro L, Nanetti L, Castaldo A, Mariotti C
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Bultmann U, Pierscianek D, Gizewski ER, Schoch B, Fritsche N, Timmann D, Maschke M, Frings M
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Recent systematic reviews

Cupertino L, Dos Reis TG, Los Angeles E, Costa TM, Shokur S, Bouri M, de Lima-Pardini AC, Coelho DB
Gait Posture 2022 Jan;91:149-154. Epub 2021 Oct 25 doi: 10.1016/j.gaitpost.2021.10.021. PMID: 34717288
Buckley E, Mazzà C, McNeill A
Gait Posture 2018 Feb;60:154-163. Epub 2017 Dec 1 doi: 10.1016/j.gaitpost.2017.11.024. PMID: 29220753
Vogel AP, Keage MJ, Johansson K, Schalling E
Cochrane Database Syst Rev 2015 Nov 13;2015(11):CD010169. doi: 10.1002/14651858.CD010169.pub2. PMID: 26564018Free PMC Article
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Digestion 2006;73 Suppl 1:94-101. Epub 2006 Feb 8 doi: 10.1159/000089784. PMID: 16498257

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