Ataxia, and Generalized myoclonic seizures

Diseases related with Ataxia and Generalized myoclonic seizures

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


Top matches:

Medium match CLN11 DISEASE


Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy
  • Cerebellar atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN11 DISEASE

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

Medium 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

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Other less relevant matches:

Medium 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

Medium match MYOCLONIC-ASTASTIC EPILEPSY


Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Medium match FAMILIAL INFANTILE MYOCLONIC EPILEPSY


FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL INFANTILE MYOCLONIC EPILEPSY

Medium 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

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52


EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

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

Top 5 symptoms//phenotypes associated to Ataxia and Generalized myoclonic seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized tonic-clonic seizures Common - Between 50% and 80% cases
Myoclonus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Generalized myoclonic seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Tremor

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria EEG abnormality Mental deterioration Febrile seizures Generalized hypotonia Epileptic encephalopathy Dementia Status epilepticus Absence seizures Atonic seizures

Rare Symptoms - Less than 30% cases


Dysmetria Progressive cerebellar ataxia Limb ataxia Eyelid myoclonus Spasticity Photosensitive tonic-clonic seizures Gait disturbance Absent speech Fever Rigidity EEG with irregular generalized spike and wave complexes Aggressive behavior Developmental regression Falls Cerebellar hypoplasia Cortical myoclonus Autistic behavior Abnormal cerebellum morphology Gait ataxia Focal-onset seizure Cerebellar atrophy Motor delay Delayed speech and language development Hyperreflexia Hypomimic face Arnold-Chiari type I malformation Bradykinesia Spastic tetraparesis Hallucinations Mutism Dystonia Short stature Spastic ataxia Paranoia Delayed fine motor development Leber optic atrophy Muscle fibrillation Frequent falls Myokymia Hemiclonic seizures Cyanosis Atypical absence seizures Developmental stagnation Clumsiness Aspiration pneumonia Behavioral abnormality Focal impaired awareness seizure Aspiration Abnormal pyramidal sign Psychosis Confusion Abnormality of the nervous system Tetraplegia Pneumonia Urinary incontinence Spastic tetraplegia Myoclonic absences Language impairment Hyperactivity Attention deficit hyperactivity disorder Generalized-onset seizure Amaurosis fugax Kinetic tremor Hand tremor Loss of consciousness Involuntary movements Cutaneous photosensitivity Intellectual disability, moderate EEG with photoparoxysmal response Headache Autism Progressive visual loss Retinal dystrophy Visual loss Optic atrophy Visual impairment Giant somatosensory evoked potentials Jerk-locked premyoclonus spikes Irritability Vegetative state Intellectual disability, mild Myoclonic atonic seizures EEG with abnormally slow frequencies EEG with spike-wave complexes (>3.5 Hz) Abnormal brain FDG positron emission tomography Impulsivity Scoliosis Inability to walk Enhancement of the C-reflex Hypoplasia of the corpus callosum Action tremor Sensory axonal neuropathy Sensory neuropathy Difficulty walking Babinski sign Peripheral neuropathy Lafora bodies



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