Ataxia, and Myoclonus

Diseases related with Ataxia and Myoclonus

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


Top matches:

High match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32


Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32

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

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Other less relevant matches:

Low match FAMILIAL CORTICAL MYOCLONUS


Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.

Related symptoms:

  • Seizures
  • Ataxia
  • Fatigue
  • Myoclonus
  • Falls


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CORTICAL MYOCLONUS

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 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2


Familial adult myoclonic epilepsy-2 is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline (summary by De Fusco et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (OMIM ).

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 Is also known as adcme|bafme2|cortical myoclonic tremor with epilepsy, familial, 2|benign adult familial myoclonic epilepsy 2|cortical myoclonus and epilepsy, autosomal dominant|fcmte2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

Low match CHOREA, BENIGN HEREDITARY; BHC


CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia|bch

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about CHOREA, BENIGN HEREDITARY; BHC

Low match BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY


Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.

BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY Is also known as adcme|bafme|benign adult familial myoclonic epilepsy 1|autosomal dominant cortical myoclonus and epilepsy|fame|cortical myoclonic tremor with epilepsy, familial, 1|familial adult myoclonic epilepsy|benign adult familial myoclonus epilepsy|familial cortica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Tremor
  • Headache


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY

Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B


Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

Top 5 symptoms//phenotypes associated to Ataxia and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized tonic-clonic seizures Uncommon - Between 30% and 50% cases
Involuntary movements Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, moderate Cognitive impairment Dementia Mental deterioration

Rare Symptoms - Less than 30% cases


EEG with photoparoxysmal response EEG with irregular generalized spike and wave complexes Loss of consciousness Jerk-locked premyoclonus spikes Enhancement of the C-reflex Giant somatosensory evoked potentials Behavioral abnormality Dysarthria Absence seizures Generalized-onset seizure Generalized myoclonic seizures Hand tremor Cortical myoclonus Focal-onset seizure Abnormality of movement Delayed speech and language development Chorea Dystonia Anxiety Dysmetria Atonic seizures Blepharospasm Sensory axonal neuropathy Limb ataxia Progressive cerebellar ataxia Sensory neuropathy Motor delay Kinetic tremor Gait disturbance Amaurosis fugax Neuronal loss in central nervous system Astrocytosis Axial dystonia Headache EEG abnormality Difficulty walking Gait ataxia Cerebellar hypoplasia Babinski sign Cutaneous photosensitivity Peripheral neuropathy Asthma Hyperactivity Focal impaired awareness seizure Microcephaly Cerebellar atrophy Absent speech Epileptic encephalopathy Depressivity Rigidity Parkinsonism Memory impairment Psychosis Upper motor neuron dysfunction Inappropriate behavior Fatigue Falls Frequent falls Dyskinesia Progressive extrapyramidal movement disorder Paroxysmal dyskinesia Typical absence seizures Myoclonic absences Global developmental delay Generalized hypotonia Muscular hypotonia Hyperreflexia Intellectual disability, severe Hypertonia Autistic behavior Abnormal pyramidal sign Intellectual disability, profound Infantile muscular hypotonia Self-mutilation Action tremor



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