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Postural tremor

MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
Synonyms: Static Tremor; Static Tremors; Tremor, Static
SNOMED CT: Static tremor (56610005); Postural tremor (56610005)
 
HPO: HP:0002174

Definition

A type of tremors that is triggered by holding a limb in a fixed position. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPostural tremor

Conditions with this feature

Gillespie syndrome
MedGen UID:
96563
Concept ID:
C0431401
Disease or Syndrome
Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).
Action myoclonus-renal failure syndrome
MedGen UID:
155629
Concept ID:
C0751779
Disease or Syndrome
The action myoclonus-renal failure syndrome, also known as progressive myclonic epilepsy-4 with or without renal failure (EPM4), is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Spinocerebellar ataxia type 2
MedGen UID:
155704
Concept ID:
C0752121
Disease or Syndrome
Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.
Leber optic atrophy
MedGen UID:
182973
Concept ID:
C0917796
Disease or Syndrome
Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither sex nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness.
Supranuclear palsy, progressive, 2
MedGen UID:
324446
Concept ID:
C1836148
Disease or Syndrome
Spinocerebellar ataxia type 27
MedGen UID:
373075
Concept ID:
C1836383
Disease or Syndrome
Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare.
Autosomal recessive spinocerebellar ataxia 7
MedGen UID:
324520
Concept ID:
C1836474
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary by Dy et al., 2015).
Spinocerebellar ataxia type 20
MedGen UID:
373352
Concept ID:
C1837541
Disease or Syndrome
Spinocerebellar ataxia type 20 (SCA20) is characterized by a slowly progressive ataxia and dysarthria. Approximately two thirds of those affected also display palatal tremor ("myoclonus") and/or abnormal phonation clinically resembling spasmodic adductor dysphonia. Dysarthria, which may be abrupt in onset, precedes the onset of ataxia in about two thirds of affected individuals, sometimes by a number of years. Hypermetric horizontal saccades (without nystagmus or disturbance of vestibulo-ocular reflex gain) are seen in about half of affected persons. Although minor pyramidal signs (brisk knee jerks, crossed adductor spread) may be seen, spasticity and extensor plantar responses are not. Cognition is normal. Clinical information is based on the findings in 16 personally examined affected members of a single Australian family of Anglo-Celtic descent.
Amyotrophic lateral sclerosis type 8
MedGen UID:
325237
Concept ID:
C1837728
Disease or Syndrome
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13.
Fragile X-associated tremor/ataxia syndrome
MedGen UID:
333403
Concept ID:
C1839780
Disease or Syndrome
FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population.
Spinocerebellar ataxia type 21
MedGen UID:
375311
Concept ID:
C1843891
Disease or Syndrome
Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Cataract, ataxia, short stature, and intellectual disability
MedGen UID:
375579
Concept ID:
C1845094
Disease or Syndrome
Spinocerebellar ataxia type 19/22
MedGen UID:
339504
Concept ID:
C1846367
Disease or Syndrome
Spinocerebellar ataxia-19 (SCA19) is an autosomal dominant disorder characterized by progressive cerebellar ataxia with a variable age of onset (age 2 years to late adulthood). Other neurologic manifestations include developmental delay and cognitive impairment; movement disorders including myoclonus, dystonia, rigidity, and bradykinesia; and seizures. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Spinocerebellar ataxia type 15/16
MedGen UID:
338301
Concept ID:
C1847725
Disease or Syndrome
Spinocerebellar ataxia type 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor, mild hyperreflexia, gaze-evoked nystagmus, and impaired vestibuloocular reflex gain. Onset is between ages seven and 72 years, usually with gait ataxia but sometimes with tremor. Affected individuals remain ambulatory for ten to 54 years after symptom onset. Mild dysphagia usually after two or more decades of symptoms has been observed in members of multiple affected families and movement-induced oscillopsia has been described in one member of an affected family.
Hereditary spastic paraplegia 5A
MedGen UID:
376521
Concept ID:
C1849115
Disease or Syndrome
Spastic paraplegia-5A (SPG5A) is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by Arnoldi et al., 2012). The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant (see 182600), but X-linked (see 303350) and autosomal recessive forms also occur. Genetic Heterogeneity of Autosomal Recessive Spastic Paraplegia Autosomal recessive forms of SPG include SPG7 (607259), caused by mutation in the paraplegin gene (602783) on chromosome 16q24; SPG9B (616586), caused by mutation in the ALDH18A1 gene (138250) on 10q24; SPG11 (604360), caused by mutation in the spatacsin gene (610844) on 15q21; SPG15 (270700), caused by mutation in the ZFYVE26 gene (612012) on 14q24; SPG18 (611225), caused by mutation in the ERLIN2 gene (611605) on 8p11; SPG20 (275900), caused by mutation in the spartin gene (607111) on 13q12; SPG21 (248900), caused by mutation in the maspardin gene (608181) on 15q21; SPG26 (609195), caused by mutation in the B4GALNT1 gene (601873) on 12q13; SPG28 (609340), caused by mutation in the DDHD1 gene (614603) on 14q22; SPG30 (610357), caused by mutation in the KIF1A gene (601255) on 2q37; SPG35 (612319), caused by mutation in the FA2H gene (611026) on 16q23; SPG39 (612020), caused by mutation in the PNPLA6 gene (603197) on 19p13; SPG43 (615043), caused by mutation in the C19ORF12 gene (614297) on 19q12; SPG44 (613206), caused by mutation in the GJC2 gene (608803) on 1q42; SPG45 (613162), caused by mutation in the NT5C2 gene (600417) on 10q24; SPG46 (614409), caused by mutation in the GBA2 gene (609471) on 9p13; SPG48 (613647), caused by mutation in the KIAA0415 gene (613653) on 7p22; SPG50 (612936), caused by mutation in the AP4M1 gene (602296) on 7q22; SPG51 (613744), caused by mutation in the AP4E1 gene (607244) on 15q21; SPG52 (614067), caused by mutation in the AP4S1 gene (607243) on 14q12; SPG53 (614898), caused by mutation in the VPS37A gene (609927) on 8p22; SPG54 (615033), caused by mutation in the DDHD2 gene (615003) on 8p11; SPG55 (615035), caused by mutation in the MTRFR gene on 12q24; SPG56 (615030), caused by mutation in the CYP2U1 gene (610670) on 4q25; SPG57 (615658), caused by mutation in the TFG gene (602498) on 3q12; SPG61 (615685), caused by mutation in the ARL6IP1 gene (607669) on 1p12; SPG62 (615681), caused by mutation in the ERLIN1 gene on 10q24; SPG63 (615686), caused by mutation in the AMPD2 gene (102771) on 1p13; SPG64 (615683), caused by mutation in the ENTPD1 gene (601752) on 10q24; SPG72 (615625), caused by mutation in the REEP2 gene (609347) on 5q31; SPG74 (616451), caused by mutation in the IBA57 gene (615316) on 1q42; SPG75 (616680), caused by mutation in the MAG gene (159460) on 19q13; SPG76 (616907), caused by mutation in the CAPN1 gene (114220) on 11q13; SPG77 (617046), caused by mutation in the FARS2 gene (611592) on 6p25; SPG78 (617225), caused by mutation in the ATP13A2 gene (610513) on 1p36; SPG79 (615491), caused by mutation in the UCHL1 gene (191342) on 4p13; SPG81 (618768), caused by mutation in the SELENOI gene (607915) on 2p23; SPG82 (618770), caused by mutation in the PCYT2 gene (602679) on 17q25; SPG83 (619027), caused by mutation in the HPDL gene (618994) on 1p34; SPG84 (619621), caused by mutation in the PI4KA gene (600286) on 22q11; SPG85 (619686), caused by mutation in the RNF170 gene (614649) on 8p11; SPG86 (619735), caused by mutation in the ABHD16A gene (142620) on 6p21; SPG87 (619966), caused by mutation in the TMEM63C gene (619953) on 14q24; SPG89 (620379), caused by mutation in the AMFR gene (603243) on 16q13; and SPG90B (620417), caused by mutation in the SPTSSA gene (613540) on 14q13. Additional autosomal recessive forms of SPG have been mapped to chromosomes 3q (SPG14; 605229), 13q14 (SPG24; 607584), 6q (SPG25; 608220), and 10q22 (SPG27; 609041). A disorder that was formerly designated SPG49 has been reclassified as hereditary sensory and autonomic neuropathy-9 with developmental delay (HSAN9; 615031).
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.
Autosomal recessive early-onset Parkinson disease 7
MedGen UID:
344049
Concept ID:
C1853445
Disease or Syndrome
Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.
Tremor, hereditary essential, 1
MedGen UID:
349909
Concept ID:
C1860861
Disease or Syndrome
Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997). Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential Tremor Other forms of hereditary essential tremor include ETM2 (602134), mapped to chromosome 2p25-p22; ETM3 (611456), mapped to chromosome 6p23; ETM4 (614782), caused by mutation in the FUS gene (137070) on chromosome 16p11; ETM5 (616736), caused by mutation in the TENM4 gene (610084) on chromosome 11q14; and ETM6 (618866), caused by mutation in the NOTCH2NLC gene (618025) on chromosome 1q21.
Autosomal recessive juvenile Parkinson disease 2
MedGen UID:
401500
Concept ID:
C1868675
Disease or Syndrome
Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity. The median age at onset is 31 years (range: 3-81 years). The disease is slowly progressive: disease duration of more than 50 years has been reported. Clinical findings vary; hyperreflexia is common. Lower-limb dystonia may be a presenting sign and cognitive decline appears to be no more frequent than in the general population. Dyskinesia as a result of treatment with levodopa frequently occurs.
Intellectual disability, autosomal recessive 6
MedGen UID:
370848
Concept ID:
C1970198
Mental or Behavioral Dysfunction
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
MedGen UID:
390993
Concept ID:
C2676243
Disease or Syndrome
POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome.
Dystonia 16
MedGen UID:
436979
Concept ID:
C2677567
Disease or Syndrome
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.\n\nThe signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).\n\nIn dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.\n\nSome people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.\n\nThe signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.
Hereditary spastic paraplegia 17
MedGen UID:
419034
Concept ID:
C2931276
Disease or Syndrome
The spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth neuropathy type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17. Features of these disorders include onset of symptoms ranging from the first to the seventh decade, slow disease progression, upper motor neuron involvement (gait disturbance with pyramidal signs ranging from mild to severe spasticity with hyperreflexia in the lower limbs and variable extensor plantar responses), lower motor neuron involvement (amyotrophy of the peroneal muscles and small muscles of the hand), and pes cavus and other foot deformities. Disease severity is variable among and within families.
Tremor, hereditary essential, 4
MedGen UID:
761337
Concept ID:
C3539195
Disease or Syndrome
Any essential tremor in which the cause of the disease is a mutation in the FUS gene.
Basal ganglia calcification, idiopathic, 5
MedGen UID:
815975
Concept ID:
C3809645
Disease or Syndrome
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present.
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
MedGen UID:
815995
Concept ID:
C3809665
Disease or Syndrome
Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Tremor, hereditary essential, 5
MedGen UID:
897748
Concept ID:
C4225223
Disease or Syndrome
Hereditary essential tremor-5 is an autosomal dominant neurologic disorder characterized by kinetic, intention, and/or postural tremor mainly affecting the upper limbs. The age at onset and severity are highly variable, even within families (summary by Hor et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300).
Dystonia 27
MedGen UID:
907580
Concept ID:
C4225336
Disease or Syndrome
Dystonia-27 (DYT27) is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015).
Ferro-cerebro-cutaneous syndrome
MedGen UID:
1658844
Concept ID:
C4751570
Disease or Syndrome
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.
Myopathy, congenital, with tremor
MedGen UID:
1684886
Concept ID:
C5231401
Disease or Syndrome
Congenital myopathy-16 (CMYP16) is an autosomal dominant muscle disorder characterized by onset of hypotonia and tremor in infancy. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. Some may develop secondary mild contractures or spinal deformities. Cognition is normal and the disease course tends to stabilize after adolescence (summary by Stavusis et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Tremor, hereditary essential, 6
MedGen UID:
1711112
Concept ID:
C5394329
Disease or Syndrome
Hereditary essential tremor-6 (ETM6) is an autosomal dominant neurologic disorder characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs. Some patients may have involvement of the head, trunk, lower limbs, and/or voice. Additional neurologic features, such as cognitive impairment or pyramidal signs, are usually not observed. Brain imaging does not show cerebellar atrophy or leukodystrophy. Skin biopsy shows intranuclear eosinophilic inclusions in fibroblasts and sweat gland cells, which may be used for diagnosis. There is evidence of genetic anticipation, with progressive earlier age at onset in younger generations. In rare cases, the phenotype may convert to NIID over time (summary by Sun et al., 2020; Ng et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300).
Charcot-Marie-Tooth disease axonal type 2X
MedGen UID:
1800447
Concept ID:
C5569024
Disease or Syndrome
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016) For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Oculopharyngodistal myopathy 4
MedGen UID:
1809981
Concept ID:
C5676941
Disease or Syndrome
Oculopharyngodistal myopathy-4 (OPDM4) is an autosomal dominant neuromuscular disorder characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs. Initial symptoms of the disorder, ptosis and limited eye movements, most commonly appear in the second or third decades. There is slow progression with development of dysarthria, dysphagia, and distal limb weakness and atrophy associated with absent deep tendon reflexes; sensation is normal. Serum creatine kinase is often increased, and skeletal muscle biopsy typically shows chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions (summary by Yu et al., 2022). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310).
Spinocerebellar ataxia, autosomal recessive 32
MedGen UID:
1802496
Concept ID:
C5676978
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021).
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
MedGen UID:
1805453
Concept ID:
C5677001
Disease or Syndrome
Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP) is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Some patients may have normal early development in infancy before symptom onset. There is phenotypic heterogeneity and the severity is highly variable; less severely affected individuals have only mild deficits and are able to attend special schools. About half of patients develop various types of seizures that may be refractory or responsive to treatment. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism (Ramos et al., 2019, Wirth et al., 2020; Singh et al., 2020).
Spinocerebellar ataxia 50
MedGen UID:
1824045
Concept ID:
C5774272
Disease or Syndrome
Spinocerebellar ataxia-50 (SCA50) is an autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Most patients develop symptoms as adults, although childhood onset has rarely been reported. Additional more variable features may include tremor, dysarthria, dysphagia, and cognitive impairment with executive dysfunction (Coutelier et al., 2022; Schoggl et al., 2022).
Spinocerebellar ataxia 27B, late-onset
MedGen UID:
1824051
Concept ID:
C5774278
Disease or Syndrome
Late-onset spinocerebellar ataxia-27B (SCA27B) is an autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties). About half of patients present with episodic features. The disorder is slowly progressive, and some patients may lose independent ambulation. Additional features include downbeat and horizontal nystagmus, diplopia, vertigo, and dysarthria. Brain imaging tends to show cerebellar atrophy (Pellerin et al., 2023). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).

Professional guidelines

PubMed

Marino BLB, de Souza LR, Sousa KPA, Ferreira JV, Padilha EC, da Silva CHTP, Taft CA, Hage-Melim LIS
Mini Rev Med Chem 2020;20(9):754-767. doi: 10.2174/1389557519666191104110908. PMID: 31686637
Bötzel K, Tronnier V, Gasser T
Dtsch Arztebl Int 2014 Mar 28;111(13):225-35; quiz 236. doi: 10.3238/arztebl.2014.0225. PMID: 24739887Free PMC Article
Baek JH, Kinrys G, Nierenberg AA
Acta Psychiatr Scand 2014 Jan;129(1):17-23. Epub 2013 Jul 3 doi: 10.1111/acps.12171. PMID: 23834617

Recent clinical studies

Etiology

Xu X, Chen J, Ji S, Gu Z, Chen M, Chhetri JK, Chan P
J Am Geriatr Soc 2023 Apr;71(4):1220-1227. Epub 2022 Dec 3 doi: 10.1111/jgs.18139. PMID: 36462179
Deng H, Wu S, Jankovic J
Expert Rev Mol Med 2019 Dec 10;21:e8. doi: 10.1017/erm.2019.7. PMID: 31818346
Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A
Parkinsonism Relat Disord 2019 Jan;58:12-16. Epub 2018 Jul 19 doi: 10.1016/j.parkreldis.2018.07.006. PMID: 30054180
Fang B, McKeon A, Hinson SR, Kryzer TJ, Pittock SJ, Aksamit AJ, Lennon VA
JAMA Neurol 2016 Nov 1;73(11):1297-1307. doi: 10.1001/jamaneurol.2016.2549. PMID: 27618707
Milanov I, Toteva S, Georgiev D
Electromyogr Clin Neurophysiol 1996 Jan-Feb;36(1):15-20. PMID: 8654316

Diagnosis

Hauser RA, Meyer JM, Factor SA, Comella CL, Tanner CM, Xavier RM, Caroff SN, Lundt L
CNS Spectr 2022 Apr;27(2):208-217. Epub 2020 Nov 20 doi: 10.1017/S109285292000200X. PMID: 33213556Free PMC Article
Fang B, McKeon A, Hinson SR, Kryzer TJ, Pittock SJ, Aksamit AJ, Lennon VA
JAMA Neurol 2016 Nov 1;73(11):1297-1307. doi: 10.1001/jamaneurol.2016.2549. PMID: 27618707
Bötzel K, Tronnier V, Gasser T
Dtsch Arztebl Int 2014 Mar 28;111(13):225-35; quiz 236. doi: 10.3238/arztebl.2014.0225. PMID: 24739887Free PMC Article
Louis ED
Handb Clin Neurol 2011;100:433-48. doi: 10.1016/B978-0-444-52014-2.00033-1. PMID: 21496600
Sethi KD
Curr Opin Neurol 2003 Aug;16(4):481-5. doi: 10.1097/01.wco.0000084226.82329.e7. PMID: 12869807

Therapy

Frei K, Truong DD
J Neurol Sci 2022 Apr 15;435:120194. Epub 2022 Feb 19 doi: 10.1016/j.jns.2022.120194. PMID: 35279634
Hauser RA, Meyer JM, Factor SA, Comella CL, Tanner CM, Xavier RM, Caroff SN, Lundt L
CNS Spectr 2022 Apr;27(2):208-217. Epub 2020 Nov 20 doi: 10.1017/S109285292000200X. PMID: 33213556Free PMC Article
Baek JH, Kinrys G, Nierenberg AA
Acta Psychiatr Scand 2014 Jan;129(1):17-23. Epub 2013 Jul 3 doi: 10.1111/acps.12171. PMID: 23834617
Arbaizar B, Gómez-Acebo I, Llorca J
Psychiatry Clin Neurosci 2008 Dec;62(6):638-45. doi: 10.1111/j.1440-1819.2008.01877.x. PMID: 19067999
Sethi KD
Curr Opin Neurol 2003 Aug;16(4):481-5. doi: 10.1097/01.wco.0000084226.82329.e7. PMID: 12869807

Prognosis

van der Linden C, Berger T, Brandt GA, Strelow JN, Jergas H, Baldermann JC, Visser-Vandewalle V, Fink GR, Barbe MT, Petry-Schmelzer JN, Dembek TA
Sensors (Basel) 2023 Oct 21;23(20) doi: 10.3390/s23208621. PMID: 37896714Free PMC Article
Xu X, Chen J, Ji S, Gu Z, Chen M, Chhetri JK, Chan P
J Am Geriatr Soc 2023 Apr;71(4):1220-1227. Epub 2022 Dec 3 doi: 10.1111/jgs.18139. PMID: 36462179
Fang B, McKeon A, Hinson SR, Kryzer TJ, Pittock SJ, Aksamit AJ, Lennon VA
JAMA Neurol 2016 Nov 1;73(11):1297-1307. doi: 10.1001/jamaneurol.2016.2549. PMID: 27618707
Bötzel K, Tronnier V, Gasser T
Dtsch Arztebl Int 2014 Mar 28;111(13):225-35; quiz 236. doi: 10.3238/arztebl.2014.0225. PMID: 24739887Free PMC Article
Josephs KA, Matsumoto JY, Ahlskog JE
Arch Neurol 2006 Mar;63(3):354-7. doi: 10.1001/archneur.63.3.354. PMID: 16533962

Clinical prediction guides

van der Linden C, Berger T, Brandt GA, Strelow JN, Jergas H, Baldermann JC, Visser-Vandewalle V, Fink GR, Barbe MT, Petry-Schmelzer JN, Dembek TA
Sensors (Basel) 2023 Oct 21;23(20) doi: 10.3390/s23208621. PMID: 37896714Free PMC Article
Luitel P, Neupane N, Paudel S, Adhikari N, Timilsina B, Suryabanshi A, Gyawali P, Ojha R
Tremor Other Hyperkinet Mov (N Y) 2023;13:34. Epub 2023 Sep 13 doi: 10.5334/tohm.776. PMID: 37719089Free PMC Article
Xu X, Chen J, Ji S, Gu Z, Chen M, Chhetri JK, Chan P
J Am Geriatr Soc 2023 Apr;71(4):1220-1227. Epub 2022 Dec 3 doi: 10.1111/jgs.18139. PMID: 36462179
Lenka A, Louis ED
Cerebellum 2019 Jun;18(3):565-574. doi: 10.1007/s12311-018-0994-6. PMID: 30565088
Fang B, McKeon A, Hinson SR, Kryzer TJ, Pittock SJ, Aksamit AJ, Lennon VA
JAMA Neurol 2016 Nov 1;73(11):1297-1307. doi: 10.1001/jamaneurol.2016.2549. PMID: 27618707

Recent systematic reviews

Luitel P, Neupane N, Paudel S, Adhikari N, Timilsina B, Suryabanshi A, Gyawali P, Ojha R
Tremor Other Hyperkinet Mov (N Y) 2023;13:34. Epub 2023 Sep 13 doi: 10.5334/tohm.776. PMID: 37719089Free PMC Article
Wang KL, Wong JK, Eisinger RS, Carbunaru S, Smith C, Hu W, Shukla AW, Hess CW, Okun MS, Ramirez-Zamora A
Neuromodulation 2022 Aug;25(6):796-803. Epub 2022 Feb 15 doi: 10.1111/ner.13220. PMID: 32578304
Keogh JWL, O'Reilly S, O'Brien E, Morrison S, Kavanagh JJ
Sports Med 2019 Aug;49(8):1199-1216. doi: 10.1007/s40279-019-01141-6. PMID: 31236903

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