Cognitive impairment, and Anxiety

Diseases related with Cognitive impairment and Anxiety

In the following list you will find some of the most common rare diseases related to Cognitive impairment 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 FAMILIAL ALZHEIMER-LIKE PRION DISEASE


Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.

Related symptoms:

  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Attention deficit hyperactivity disorder


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ALZHEIMER-LIKE PRION DISEASE

Medium match CHILDHOOD-ONSET BENIGN CHOREA WITH STRIATAL INVOLVEMENT


Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016).For a discussion of genetic heterogeneity of ADSD, see ADSD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Dementia
  • Anxiety
  • Mental deterioration
  • Parkinsonism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET BENIGN CHOREA WITH STRIATAL INVOLVEMENT

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Other less relevant matches:

Medium match MYOCLONUS-DYSTONIA SYNDROME


Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

MYOCLONUS-DYSTONIA SYNDROME Is also known as myoclonic dystonia|hereditary essential myoclonus|dystonia, alcohol-responsive|myoclonus-dystonia syndrome|myoclonus, hereditary essential|alcohol-responsive dystonia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cognitive impairment
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOCLONUS-DYSTONIA SYNDROME

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 PRKAR1B-RELATED NEURODEGENERATIVE DEMENTIA WITH INTERMEDIATE FILAMENTS


PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.

Related symptoms:

  • Dementia
  • Anxiety
  • Falls
  • Postural instability
  • Parkinsonism


SOURCES: ORPHANET MENDELIAN

More info about PRKAR1B-RELATED NEURODEGENERATIVE DEMENTIA WITH INTERMEDIATE FILAMENTS

Medium match BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5


Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Dystonia
  • Headache


SOURCES: OMIM MENDELIAN

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5

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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Anxiety

Symptoms // Phenotype % cases
Chorea Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Parkinsonism Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Dysarthria Dementia Memory impairment Rigidity Abnormality of movement Behavioral abnormality Gait disturbance Myoclonus Tremor Migraine Psychosis

Rare Symptoms - Less than 30% cases


Intellectual disability Generalized hypotonia Seizures Axial dystonia Inappropriate behavior Apathy Headache Agoraphobia Basal ganglia calcification Abnormality of the eye Nystagmus Global developmental delay Urinary incontinence Dysmetria Short stepped shuffling gait Gait ataxia Abnormal neuron morphology Vertigo Cerebellar atrophy Dysphagia Motor tics Dyskinesia Athetosis Abnormal autonomic nervous system physiology Generalized tonic-clonic seizures Fever Head tremor Hand tremor Resting tremor Personality changes Postural tremor Abnormality of extrapyramidal motor function Hypoglycemia Cerebral atrophy Fatigue Hearing impairment Abnormality of eye movement Episodic quadriplegia Loss of consciousness Hemiplegia Impaired visuospatial constructive cognition Choreoathetosis Hemiparesis Tetraparesis Status epilepticus Generalized-onset seizure Tetraplegia Inertia Postural instability Frontotemporal cerebral atrophy Delayed gross motor development Obsessive-compulsive behavior Torticollis Involuntary movements Hyperactivity Muscular hypotonia Striatal T2 hyperintensity Abnormal corpus striatum morphology Parkinsonism with favorable response to dopaminergic medication Jaw pain Torsion dystonia Deficit in phonologic short-term memory Abdominal symptom Perseveration Emotional lability Specific learning disability Sleep disturbance Attention deficit hyperactivity disorder Upper motor neuron dysfunction Laryngeal dystonia Writer's cramp Motor neuron atrophy Bradykinesia Spinocerebellar tract degeneration Motor deterioration Shuffling gait Short attention span Diffuse cerebral atrophy Frontotemporal dementia Language impairment Muscle stiffness Falls Personality disorder Astrocytosis Neuronal loss in central nervous system Asthma Motor delay Spinal myoclonus Limb myoclonus Panic attack Cortical myoclonus Retrocollis Kinetic tremor



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