Ataxia, and Neurodegeneration

Diseases related with Ataxia and Neurodegeneration

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


Top matches:

Medium match KURU, SUSCEPTIBILITY TO


Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

Related symptoms:

  • Ataxia
  • Mental deterioration
  • Abnormality of eye movement
  • Unsteady gait
  • Neurodegeneration


SOURCES: OMIM MENDELIAN

More info about KURU, SUSCEPTIBILITY TO

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 SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8


Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

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Other less relevant matches:

Medium match UNVERRICHT-LUNDBORG DISEASE


Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

UNVERRICHT-LUNDBORG DISEASE Is also known as uld|progressive myoclonus epilepsy type 1|epm1a|baltic myoclonic epilepsy|epm1|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 1a|progressive myoclonic epilepsy type 1|pme|pme type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about UNVERRICHT-LUNDBORG DISEASE

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 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 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

Medium match HUNTINGTON DISEASE-LIKE 2


Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME


AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Is also known as spax4|autosomal recessive spastic ataxia type 4

Related symptoms:

  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME

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

Top 5 symptoms//phenotypes associated to Ataxia and Neurodegeneration

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Dementia Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Limb ataxia Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Depressivity Seizures Hallucinations Parkinsonism Hyperreflexia Cognitive impairment Myoclonus Dystonia Nystagmus Apraxia Behavioral abnormality Cerebral atrophy Memory impairment Personality changes Apathy Rigidity

Rare Symptoms - Less than 30% cases


Mutism Neuronal loss in central nervous system Generalized tonic-clonic seizures Lafora bodies Cerebral cortical atrophy Urinary incontinence Absence seizures Gliosis Hyperorality Anxiety Giant somatosensory evoked potentials Cutaneous photosensitivity Falls Spastic ataxia Motor delay Abnormality of eye movement Unsteady gait Dysphagia Abnormality of movement Bradykinesia Hyperkinesis Dysdiadochokinesis Impulsivity Cerebellar atrophy Delusions Abnormal pyramidal sign Progressive language deterioration Involuntary movements Action tremor Acanthocytosis Delayed speech and language development Abnormality of the cerebrum Irritability Weight loss Hypersexuality Abnormal corpus striatum morphology Primitive reflex Limb apraxia Diminished motivation Repetitive compulsive behavior Hearing impairment Chorea Caudate atrophy Dysmetria Oculomotor apraxia Athetosis Vertical supranuclear gaze palsy Functional motor deficit Gait ataxia Progressive gait ataxia Optic atrophy Visual loss Visual auras Generalized tonic-clonic seizures with focal onset Vegetative state Visual hallucinations Progressive neurologic deterioration Psychosis Generalized-onset seizure Focal-onset seizure Generalized myoclonic seizures Inability to walk Hepatic failure Confusion Difficulty walking Abnormality of metabolism/homeostasis Hyporeflexia Headache Blindness Upper limb hypertonia Movement abnormality of the tongue Lower limb hypertonia Dyscalculia Delayed ability to walk Emotional lability Spastic paraparesis Paraparesis Frequent falls Progressive cerebellar ataxia Babinski sign Bulimia Brain atrophy Inappropriate behavior Limb dystonia Encephalopathy Morning myoclonic jerks EEG with polyspike wave complexes Olivopontocerebellar atrophy Muscle fibrillation Intention tremor Poor speech Intellectual disability Head titubation Hypometric saccades Titubation Truncal ataxia Abnormal cerebellum morphology Leukodystrophy Abnormality of the eye Spasticity Generalized hypotonia Global developmental delay Symmetric lesions of the basal ganglia Degeneration of the striatum Abnormality of the basal ganglia Hyperactive deep tendon reflexes Hypokinesia Lower limb hyperreflexia Slurred speech Aggressive behavior Abnormality of extrapyramidal motor function Perseveration Aphasia Dysgraphia Disinhibition Astrocytosis Dilation of lateral ventricles Dyslexia Senile plaques Lewy bodies Frontotemporal dementia Restlessness Neurofibrillary tangles Polyphagia Dysphasia Global brain atrophy Stereotypy Agitation Amyotrophic lateral sclerosis Alzheimer disease Akinesia Language impairment Clumsiness Hemiparesis Paralysis Violent behavior Paranoia Auditory hallucinations Bowel incontinence Simple partial occipital seizures



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