Ataxia, and Parkinsonism

Diseases related with Ataxia and Parkinsonism

In the following list you will find some of the most common rare diseases related to Ataxia and Parkinsonism that can help you solving undiagnosed cases.


Top matches:

Medium match HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS


Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.

HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS Is also known as c9orf72-related huntington disease phenocopy|c9orf72-related huntington disease-like syndrome|huntington disease phenocopy due to c9orf72 expansions

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dystonia
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS

Medium match AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION


Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.

AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION Is also known as adsd

Related symptoms:

  • Dysarthria
  • Tremor
  • Gait disturbance
  • Dysphagia
  • Rigidity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION

Medium match SPINOCEREBELLAR ATAXIA TYPE 12


Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

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Other less relevant matches:

Medium match ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2


Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Medium match SPINOCEREBELLAR ATAXIA TYPE 17


Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

SPINOCEREBELLAR ATAXIA TYPE 17 Is also known as hdl4|sca17|huntington disease-like 4

Related symptoms:

  • Ataxia
  • Spasticity
  • Gait disturbance
  • Cerebellar atrophy
  • Behavioral abnormality


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 17

Medium match SPINOCEREBELLAR ATAXIA TYPE 21


Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

Medium match TREMOR, HEREDITARY ESSENTIAL, 1; ETM1


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 TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Medium match FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED


Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Is also known as dementia, hereditary dysphasic disinhibition|ftld-tdp, grn-related|frontotemporal dementia with tdp43 inclusions, grn-related|ftldu|frontotemporal lobar degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive|ftdu|hddd

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dysphagia
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

Medium match SPINOCEREBELLAR ATAXIA TYPE 28


Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.

SPINOCEREBELLAR ATAXIA TYPE 28 Is also known as sca28

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 28

Medium match NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP


Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

Top 5 symptoms//phenotypes associated to Ataxia and Parkinsonism

Symptoms // Phenotype % cases
Rigidity Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Parkinsonism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Cerebellar atrophy Gait disturbance Limb ataxia Nystagmus Abnormality of movement Mental deterioration Memory impairment Depressivity Dysphagia Postural tremor Anxiety Gait ataxia Abnormal pyramidal sign Dementia Cerebral atrophy Chorea Hyperreflexia

Rare Symptoms - Less than 30% cases


Inappropriate behavior Global developmental delay Clumsiness Personality changes Abnormality of extrapyramidal motor function Intellectual disability Apraxia Abnormality of eye movement Ophthalmoplegia Migraine Babinski sign Hemiparesis Myoclonus Spasticity Neuronal loss in central nervous system Seizures Apathy Hypokinesia Head tremor Dysdiadochokinesis Lower limb hyperreflexia Dysgraphia Bradykinesia Slow saccadic eye movements Unsteady gait Neurodegeneration Resting tremor Akinesia Impulsivity Hearing impairment Kinetic tremor Amyotrophic lateral sclerosis Alzheimer disease Language impairment Brain atrophy Mutism Hallucinations Gliosis Cerebral cortical atrophy Paralysis Global brain atrophy Agitation Dilation of lateral ventricles Aphasia Hypersexuality Athetosis Urinary incontinence Dysmetria Dysmetric saccades Limb dystonia Gaze-evoked nystagmus Ophthalmoparesis Hypertonia Ptosis Repetitive compulsive behavior Diminished motivation Limb apraxia Progressive language deterioration Bulimia Dysphasia Hyperorality Dyscalculia Perseveration Disinhibition Astrocytosis Oculomotor apraxia Dyslexia Senile plaques Lewy bodies Frontotemporal dementia Restlessness Neurofibrillary tangles Polyphagia Hand tremor Hyporeflexia Hypoglycemia Action tremor Generalized-onset seizure Tetraplegia Generalized tonic-clonic seizures Abnormality of the eye Headache Generalized hypotonia Tremor by anatomical site Limb dysmetria Poor fine motor coordination Sensorimotor neuropathy Tetraparesis Intention tremor Abnormal cerebellum morphology Symmetric lesions of the basal ganglia Degeneration of the striatum Abnormality of the basal ganglia Hyperactive deep tendon reflexes Slurred speech Hyperkinesis Upper motor neuron dysfunction Psychosis Status epilepticus Choreoathetosis Fatigue Intellectual disability, severe Fever Microsaccadic pursuit Intermittent microsaccadic pursuits Scanning speech Cogwheel rigidity Cerebellar vermis atrophy Fasciculations Diplopia Progressive cerebellar ataxia Aggressive behavior Neoplasm Abnormal autonomic nervous system physiology Cerebellar Purkinje layer atrophy Generalized cerebral atrophy/hypoplasia Writer's cramp Blepharospasm Atrophy/Degeneration affecting the brainstem Torticollis Involuntary movements Episodic quadriplegia Loss of consciousness Hemiplegia Vertical supranuclear gaze palsy



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