Cognitive impairment, and Vertigo

Diseases related with Cognitive impairment and Vertigo

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


Top matches:

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 HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME


High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME

Medium match CRIGLER-NAJJAR SYNDROME, TYPE II


The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (OMIM ), Rotor syndrome (OMIM ), and several forms of intrahepatic cholestasis ({147480}, {211600}, {214950}, {243300}). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase (Labrune et al., 1989, Seppen et al., 1994).

CRIGLER-NAJJAR SYNDROME, TYPE II Is also known as hblrcn2|hyperbilirubinemia, crigler-najjar type ii

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment
  • Jaundice


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME, TYPE II

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Other less relevant matches:

Medium match DENTATORUBRAL PALLIDOLUYSIAN ATROPHY


Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.

DENTATORUBRAL PALLIDOLUYSIAN ATROPHY Is also known as dentatorubropallidoluysian atrophy|drpla|naito-oyanagi disease

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENTATORUBRAL PALLIDOLUYSIAN ATROPHY

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Medium match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Medium match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Medium match SPINOCEREBELLAR ATAXIA TYPE 42


Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.

SPINOCEREBELLAR ATAXIA TYPE 42 Is also known as sca42

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 42

Medium match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Medium match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Headache Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Migraine Tremor Hearing impairment Nystagmus Memory impairment Gait ataxia Depressivity Pain Motor delay Global developmental delay Hyperreflexia Strabismus Muscle weakness Muscular hypotonia Psychosis Chorea Parkinsonism Gait disturbance

Rare Symptoms - Less than 30% cases


Abnormality of the eye Aminoaciduria Hyperintensity of cerebral white matter on MRI Generalized hypotonia Microcephaly Saccadic smooth pursuit Episodic ataxia Mental deterioration Fever Dysphagia Emotional lability Diplopia Urinary incontinence Abnormal cerebellum morphology Unsteady gait Abnormal pyramidal sign Spasticity Fatigue Confusion Involuntary movements Hypertension Photophobia Behavioral abnormality Diarrhea Dysdiadochokinesis Paralysis Choreoathetosis Ophthalmoparesis Basal ganglia calcification Athetosis Dyskinesia Anxiety Bilateral sensorineural hearing impairment Dystonia Peripheral neuropathy Lethargy Encephalitis Abnormality of the liver Sensorineural hearing impairment Dysmetria Postural instability Skin rash Loss of Purkinje cells in the cerebellar vermis Reduced brain N-acetyl aspartate level by MRS Eyelid myokymia Short stature Ptosis Hydrocephalus Hypertonia Gastroesophageal reflux EEG abnormality Cirrhosis Malabsorption Upper limb postural tremor Hepatic steatosis Aciduria Abnormal blistering of the skin Cutaneous photosensitivity Inflammatory abnormality of the skin Chronic diarrhea Micrographia Hallucinations Neurodevelopmental abnormality Impaired vibration sensation at ankles Abnormality of vision Horizontal nystagmus Skeletal muscle atrophy Motor tics Cerebellar atrophy Babinski sign Calcification of the small brain vessels Pill-rolling tremor Apathy Spastic gait Progressive choreoathetosis Psoriasiform dermatitis Impaired distal vibration sensation Alzheimer disease Impotence Urinary urgency Resting tremor Cerebellar vermis atrophy Atrophy/Degeneration affecting the brainstem Head tremor Spastic ataxia Hypometric saccades Gaze-evoked horizontal nystagmus Hypopigmented skin patches Alcoholism Focal motor seizures Slurred speech Neuronal loss in central nervous system Cerebral calcification Bradykinesia Abnormality of extrapyramidal motor function Progressive neurologic deterioration Broad-based gait Clumsiness Muscle stiffness Schizophrenia Oral-pharyngeal dysphagia Abnormality of movement Mask-like facies Abnormality of neuronal migration Bipolar affective disorder Progressive encephalopathy Frontotemporal dementia Lewy bodies Abnormal lower motor neuron morphology Calcinosis Focal dystonia Orofacial dyskinesia Gliosis Neurological speech impairment Pseudohypoparathyroidism Mood swings Irregular hyperpigmentation Delusions Gingivitis Bruxism Methylmalonic aciduria Limb dysmetria Abnormal urinary color Mood changes Glossitis Subcutaneous hemorrhage Neural tube defect Corneal opacity Hyperphenylalaninemia Glabellar reflex Grasp reflex Neutral hyperaminoaciduria Hepatomegaly Intrauterine growth retardation Ventriculomegaly Thrombocytopenia Encephalopathy Rigidity Insomnia Amaurosis fugax Scoliosis Motor polyneuropathy Thick lower lip vermilion Subcutaneous nodule Telangiectasia Lymphedema Intrahepatic cholestasis Opacification of the corneal stroma Tinnitus Axonal degeneration Telangiectasia of the skin Abnormality of the periventricular white matter Progressive distal muscle weakness Polyneuropathy Angiokeratoma Angiokeratoma corporis diffusum Lip telangiectasia Increased urinary O-linked sialopeptides Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Hyperbilirubinemia Growth delay Cholestasis Jaundice Cardiomegaly Thick vermilion border Cardiomyopathy Dyssynergia Limb ataxia Truncal ataxia Gaze-evoked nystagmus Optic neuropathy Blepharospasm Action tremor Impaired proprioception Myoclonus Oromandibular dystonia Hyporeflexia Unconjugated hyperbilirubinemia Distal sensory impairment Depressed nasal bridge Intellectual disability, mild Cerebral atrophy Hyperkeratosis Coarse facial features Conjugated hyperbilirubinemia Distal muscle weakness Papule Abnormality of the cerebral white matter Dry skin Peripheral axonal neuropathy Albuminuria Myopathy Lupus anticoagulant Thrombocytosis Vasculitis Systemic lupus erythematosus Hemiplegia Intracranial hemorrhage Personality changes Heart murmur Cutis marmorata Aphasia Visual field defect Atrophic scars Transient ischemic attack Myocardial infarction Acrocyanosis Arteriovenous malformation Peripheral arterial stenosis Facial paralysis Cerebral ischemia Hemianopia Arterial stenosis Thromboembolic stroke Progressive cerebellar ataxia Vascular skin abnormality Antiphospholipid antibody positivity Hemiparesis Nephropathy Vomiting Abnormal autonomic nervous system physiology Profound hearing impairment High myopia Hyperhidrosis Abdominal pain Autism Pallor Attention deficit hyperactivity disorder Nausea and vomiting Nausea Anorexia Exercise intolerance Myopia Abnormality of mitochondrial metabolism Gastrointestinal dysmotility Visual impairment Hematuria Proteinuria Myalgia Facial palsy Conductive hearing impairment Developmental regression Rod-cone dystrophy Stroke Dense calcifications in the cerebellar dentate nucleus



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