Ataxia, and Dyskinesia

Diseases related with Ataxia and Dyskinesia

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43

Medium match EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12


Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12

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

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Other less relevant matches:

Medium match CLN13 DISEASE


Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

Medium match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY


Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Low match MEPAN SYNDROME


Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome|dystonia 29|dyt29|autosomal recessive childhood-onset dystonia, dyt29 type|dystonia 29, childhood-onset|mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEPAN SYNDROME

Low match SPINOCEREBELLAR ATAXIA TYPE 10


Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.

SPINOCEREBELLAR ATAXIA TYPE 10 Is also known as sca10

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 10

Low match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2


IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D


PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

Low match SPINOCEREBELLAR ATAXIA TYPE 27


Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 27 Is also known as sca27|cerebellar ataxia, autosomal dominant, fgf14-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 27

Top 5 symptoms//phenotypes associated to Ataxia and Dyskinesia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar atrophy Spasticity Paroxysmal dyskinesia Myoclonus Hyperreflexia Generalized tonic-clonic seizures Cognitive impairment Generalized hypotonia Involuntary movements Global developmental delay Generalized-onset seizure Difficulty walking Depressivity Nystagmus Babinski sign Gait disturbance

Rare Symptoms - Less than 30% cases


Aggressive behavior Tremor Cerebral atrophy Postural tremor Brisk reflexes Clonus Sleep disturbance Postnatal microcephaly Impaired smooth pursuit Gait ataxia Gaze-evoked nystagmus Chorea Visual impairment Focal-onset seizure Encephalopathy Paroxysmal choreoathetosis Febrile seizures Migraine Epileptic encephalopathy Choreoathetosis Hypsarrhythmia Lethargy Abnormality of the cerebral white matter Inability to walk Normal interictal EEG Cerebral visual impairment Congenital microcephaly Flexion contracture Hypoplasia of the corpus callosum Limb myoclonus Absent speech EEG abnormality Delayed myelination Blindness Delayed speech and language development Feeding difficulties EEG with generalized epileptiform discharges Focal motor seizures Scanning speech Kinetic tremor Gait imbalance Hyperactivity Irritability Progressive microcephaly Spastic tetraplegia Limb ataxia Abnormality of ocular smooth pursuit Dysmetric saccades Dysgraphia Orofacial dyskinesia Head tremor Hand tremor Sensory axonal neuropathy Impaired vibratory sensation Akinesia Truncal ataxia Memory impairment Intellectual disability, profound Sensory neuropathy Pes cavus Intellectual disability, mild Intellectual disability, severe Peripheral neuropathy Strabismus Limb joint contracture Abnormality of the periventricular white matter Cerebellar vermis atrophy Progressive spasticity Apathy Urinary urgency Intention tremor Focal impaired awareness seizure Diffuse cerebral atrophy Diplopia Dehydration Postural instability Paresthesia Paraplegia Spastic paraplegia Abnormal pyramidal sign Headache Frontal release signs Primitive reflex Emotional lability Spastic paraparesis Stereotypy Personality changes Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Mental deterioration Muscular hypotonia of the trunk Rigidity Dementia Writer's cramp Paroxysmal dystonia Paraparesis Apnea Dysdiadochokinesis Abnormality of eye movement Lower limb spasticity Focal seizures, afebril Status epilepticus Progressive cerebellar ataxia Unsteady gait Dysmetria Intellectual disability, moderate Hyporeflexia Craniofacial dystonia Absence seizures Abnormality of the eye Progressive spastic paraplegia Typical absence seizures Reduced visual acuity Dysphagia Optic atrophy Motor delay Myoclonic absences Anxiety Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Episodic ataxia Red-green dyschromatopsia



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