Ataxia, and Anxiety

Diseases related with Ataxia and Anxiety

In the following list you will find some of the most common rare diseases related to Ataxia and Anxiety 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 INFANTILE CONVULSIONS AND CHOREOATHETOSIS


Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

Related symptoms:

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56


EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

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Other less relevant matches:

Medium match CHOREA, BENIGN HEREDITARY; BHC


CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia|bch

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about CHOREA, BENIGN HEREDITARY; BHC

Medium match AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4


Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 Is also known as chromosome xp22 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4

Medium match SPINOCEREBELLAR ATAXIA 48; SCA48


SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in mid-adulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as anxiety and deficits in executive function. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis (summary by Genis et al., 2018).

Related symptoms:

  • Ataxia
  • Dysarthria
  • Dysphagia
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 48; SCA48

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 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 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES


Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Cerebral atrophy
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

Medium match SPINOCEREBELLAR ATAXIA 12; SCA12


Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 12; SCA12

Top 5 symptoms//phenotypes associated to Ataxia and Anxiety

Symptoms // Phenotype % cases
Dystonia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Depressivity Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Parkinsonism Gait disturbance Dementia Tremor Chorea Migraine Global developmental delay Intellectual disability Rigidity Memory impairment

Rare Symptoms - Less than 30% cases


Head tremor Aggressive behavior Neuronal loss in central nervous system Personality changes Status epilepticus Attention deficit hyperactivity disorder Delusions Hyperactivity Delayed speech and language development Cerebellar atrophy Impulsivity Abnormality of extrapyramidal motor function Gait ataxia Choreoathetosis Myoclonus Abnormality of movement Abnormality of eye movement Dysmetria Generalized-onset seizure Cerebral atrophy Abnormality of the eye Stereotypy Generalized hypotonia Urinary incontinence Axial dystonia Postural tremor Resting tremor Hypoglycemia Fatigue Fever Hand tremor Hearing impairment Bowel incontinence Kinetic tremor Peripheral neuropathy Limb tremor Myokymia Spinocerebellar tract degeneration Action tremor Dysdiadochokinesis Sensorimotor neuropathy Progressive cerebellar ataxia Cerebral cortical atrophy Hyperreflexia Violent behavior Encephalopathy Hyperorality Paranoia Auditory hallucinations Loss of consciousness Apathy Mutism Hallucinations Gliosis Abnormal cerebellum morphology Neurodegeneration Episodic quadriplegia Tics Hemiplegia Paroxysmal dyskinesia Broad-based gait EEG abnormality Scoliosis Normal interictal EEG Focal seizures, afebril Paroxysmal choreoathetosis Paroxysmal dystonia Writer's cramp Obsessive-compulsive trait Involuntary movements Focal-onset seizure Dyskinesia Apnea Inappropriate behavior Upper motor neuron dysfunction Psychosis Poor coordination Eyelid fasciculation Abnormal autonomic nervous system physiology Dysphagia Hemiparesis Tetraparesis Tetraplegia Generalized tonic-clonic seizures Headache Nystagmus Agoraphobia Motor tics Motor delay Autistic behavior Autism Absent speech Atrial septal defect Astrocytosis Asthma Behavioral abnormality Facial myokymia



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