Ataxia, and Abnormality of extrapyramidal motor function

Diseases related with Ataxia and Abnormality of extrapyramidal motor function

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


Top matches:

Low 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

Low match GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY


Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

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Other less relevant matches:

Low 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

Low match SPINOCEREBELLAR ATAXIA TYPE 12


Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

Low 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

Low 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

Low match SPINOCEREBELLAR ATAXIA TYPE 17


Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

SPINOCEREBELLAR ATAXIA TYPE 17 Is also known as hdl4|sca17|huntington disease-like 4

Related symptoms:

  • Ataxia
  • Spasticity
  • Gait disturbance
  • Cerebellar atrophy
  • Behavioral abnormality


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 17

Low match DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM


DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

Low match SPINOCEREBELLAR ATAXIA TYPE 20


Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.

SPINOCEREBELLAR ATAXIA TYPE 20 Is also known as sca20

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 20

Top 5 symptoms//phenotypes associated to Ataxia and Abnormality of extrapyramidal motor function

Symptoms // Phenotype % cases
Rigidity Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Cerebellar atrophy Bradykinesia Dysarthria Cognitive impairment Global developmental delay Abnormal pyramidal sign Tremor Myoclonus Abnormality of movement Gait disturbance Dementia Chorea Behavioral abnormality Intellectual disability Mental deterioration Depressivity

Rare Symptoms - Less than 30% cases


Anxiety Postural tremor Muscular hypotonia of the trunk Absent speech Tremor by anatomical site Hypokinesia Involuntary movements Intention tremor Neuronal loss in central nervous system Generalized tonic-clonic seizures Intellectual disability, severe Delayed speech and language development Cerebral atrophy Torticollis Spasticity Atrophy/Degeneration affecting the brainstem Blepharospasm Dyskinesia Frontal release signs Primitive reflex Emotional lability Personality changes Writer's cramp Focal-onset seizure Loss of consciousness Episodic quadriplegia Babinski sign Diffuse cerebral atrophy Arnold-Chiari type I malformation Generalized cerebral atrophy/hypoplasia Myoclonic absences Hypermetric saccades Upper limb postural tremor Downbeat nystagmus Laryngeal dystonia Kinetic tremor Gaze-evoked nystagmus Dysphonia Cerebral calcification Vertigo Gait ataxia Eyelid myoclonus Cerebellar Purkinje layer atrophy Cortical myoclonus Myokymia Hypomimic face Abnormal autonomic nervous system physiology Epileptic encephalopathy Generalized myoclonic seizures EEG abnormality Fever Motor delay Short stature Hemiplegia Sensorimotor neuropathy Choreoathetosis Absence seizures Restlessness Athetosis Increased serum lactate Inability to walk Severe global developmental delay Progressive extrapyramidal movement disorder Self-mutilation Infantile muscular hypotonia Intellectual disability, profound Hyperkinesis Autistic behavior Hyperactivity Hypertonia Muscular hypotonia Inappropriate behavior Upper motor neuron dysfunction Psychosis Memory impairment Dysphagia Slurred speech Hemiparesis Nystagmus Tetraparesis Status epilepticus Generalized-onset seizure Migraine Tetraplegia Abnormality of eye movement Abnormality of the eye Headache Limb dysmetria Dysdiadochokinesis Poor fine motor coordination Action tremor Abnormal cerebellum morphology Unsteady gait Symmetric lesions of the basal ganglia Degeneration of the striatum Abnormality of the basal ganglia Hyperactive deep tendon reflexes Lower limb hyperreflexia Isometric tremor



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