Ataxia, and Confusion

Diseases related with Ataxia and Confusion

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


Top matches:

Medium match ABRI AMYLOIDOSIS


ABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.

ABRI AMYLOIDOSIS Is also known as presenile dementia with spastic ataxia|fbd|cerebral amyloid angiopathy, british type|familial dementia, british type|dementia, familial british

Related symptoms:

  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ABRI AMYLOIDOSIS

Medium match EARLY-ONSET LAFORA BODY DISEASE


Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Medium match EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE


Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE Is also known as early-onset familial autosomal dominant alzheimer disease|eofad|familial alzheimer disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Hypertonia
  • Dementia


SOURCES: ORPHANET MENDELIAN

More info about EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

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Other less relevant matches:

Medium match LAFORA DISEASE


Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

LAFORA DISEASE Is also known as epm2a|lafora disease|progressive myoclonus epilepsy type 2|lafora body disease|pme type 2|epilepsy, progressive myoclonic, 2a|melf|epm2|lbd|progressive myoclonic epilepsy type 2

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LAFORA DISEASE

Medium match HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA


Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

Medium match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A


Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by Arsov et al., 2011).In general, the neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The ultrastructural pattern of lipopigment in CLN4 comprises a mixed pattern of 'granular,' 'curvilinear,' and 'fingerprint' profiles. (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Blindness
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A

Medium match CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY


Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY Is also known as encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1


MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

Top 5 symptoms//phenotypes associated to Ataxia and Confusion

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Dementia Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Hallucinations Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Headache Depressivity Apraxia Intellectual disability Visual hallucinations Myoclonus Dysarthria Spasticity Neurofibrillary tangles Global developmental delay Neurodegeneration Hearing impairment Memory impairment Gait ataxia Progressive neurologic deterioration Vegetative state Psychosis Hyperreflexia Nystagmus Blindness Cerebral atrophy Gait disturbance Paresthesia Alzheimer disease Coma Neuronal loss in central nervous system

Rare Symptoms - Less than 30% cases


Leukoencephalopathy Cognitive impairment Difficulty walking Vertigo Brain atrophy Pain Edema Fever Gliosis Generalized hypotonia Episodic ataxia Migraine Intention tremor Abnormality of extrapyramidal motor function Bradykinesia Abnormal cerebellum morphology Aphasia Hemiparesis Severe hearing impairment Mutism Auditory hallucinations Dystonia Cerebellar atrophy Global brain atrophy Generalized myoclonic seizures Transient unilateral blurring of vision Retinal degeneration Senile plaques Apathy Truncal ataxia Peripheral demyelination Rigidity Hypertonia Drowsiness Migraine with aura Personality changes Cerebral cortical atrophy Parkinsonism Hemiplegia Decreased number of peripheral myelinated nerve fibers Agitation Dysphasia Lafora bodies Cataplexy Athetosis Intracellular accumulation of autofluorescent lipopigment storage material Nevus Delirium Granular osmiophilic deposits (GROD) in cells Babinski sign Narcolepsy Encephalopathy Muscular hypotonia Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Microcephaly Ichthyosis Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Developmental regression Acidosis Dysmetria Dyscalculia Anxiety Motor delay Personality disorder Migraine without aura Borderline personality disorder Phonophobia Restlessness Blurred vision Loss of consciousness Tinnitus Diplopia Nausea Stroke Lactic acidosis Autistic behavior Excessive daytime somnolence Intellectual disability, moderate Photophobia Intellectual disability, mild Vomiting Delayed speech and language development Loss of ability to walk Mild microcephaly Loss of speech Progressive spasticity Dysphonia Left ventricular hypertrophy Ventricular hypertrophy Sensory ataxia CNS demyelination Diffuse cerebral atrophy Generalized tonic-clonic seizures Neurodevelopmental abnormality Semantic dementia Deposits immunoreactive to beta-amyloid protein Finger agnosia Abnormality of metabolism/homeostasis Visual loss Hepatic failure Abnormality of higher mental function Inability to walk Focal-onset seizure Generalized-onset seizure Cutaneous photosensitivity Absence seizures Hyperkinesis Abnormal social behavior Dysgraphia Giant somatosensory evoked potentials Spastic tetraplegia Abnormality of the adrenal glands Cerebral amyloid angiopathy Falls Tetraplegia Progressive cerebellar ataxia Urinary incontinence Frequent falls Disinhibition Spastic tetraparesis Spastic ataxia Paranoia Oculomotor apraxia Abnormality of vision Language impairment Generalized tonic-clonic seizures with focal onset Visual auras Lewy bodies Sensory impairment Peripheral neuropathy Hyporeflexia Hyperhidrosis Irritability Distal sensory impairment Sensory neuropathy Abnormal autonomic nervous system physiology Frontal release signs Progressive hearing impairment Impulsivity Osteomyelitis Axonal loss Onion bulb formation Delusions Sensorineural hearing impairment Frontal lobe dementia Simple partial occipital seizures Leukodystrophy Dysphagia Ventriculomegaly Hypoplasia of the corpus callosum Abnormal pyramidal sign Abnormality of the cerebral white matter Postural instability Muscle stiffness Diffuse leukoencephalopathy Atrophy/Degeneration affecting the brainstem Insomnia Frontotemporal dementia Shuffling gait Astrocytosis Restless legs Inappropriate behavior Psychotic episodes



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