Ataxia, and Febrile seizures

Diseases related with Ataxia and Febrile seizures

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24


Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Behavioral abnormality
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24

Medium match GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9


Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by Schubert et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 Is also known as gefs+, type 9|gefs+9

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9

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

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Other less relevant matches:

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 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 CONGENITAL CEREBELLAR ATAXIA DUE TO RNU12 MUTATION


Related symptoms:

  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral cortical atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL CEREBELLAR ATAXIA DUE TO RNU12 MUTATION

Medium match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6


A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Medium match FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY


Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Medium match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Top 5 symptoms//phenotypes associated to Ataxia and Febrile seizures

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

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

Common Symptoms - More than 50% cases


Status epilepticus

Uncommon Symptoms - Between 30% and 50% cases


Absence seizures Dysarthria Generalized myoclonic seizures Generalized hypotonia Atonic seizures Developmental regression Scoliosis Autistic behavior Aggressive behavior Myoclonus Focal-onset seizure Fever Delayed speech and language development Hyperactivity Encephalopathy Cognitive impairment Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Gait ataxia Autism Attention deficit hyperactivity disorder Language impairment Intellectual disability, severe Hemiclonic seizures EEG abnormality Behavioral abnormality Mental deterioration Photosensitive tonic-clonic seizures Difficulty walking Clumsiness Progressive cerebellar ataxia Focal impaired awareness seizure Spasticity Tremor Cutaneous photosensitivity Psychosis Hyperventilation Elevated serum creatine phosphokinase Dystonia Hyperreflexia Areflexia Sensory neuropathy Syndactyly Bruxism Motor deterioration Dysdiadochokinesis Intermittent hyperventilation Dysphasia EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Perisylvian polymicrogyria Speech apraxia Epileptic spasms Aphasia Neurodevelopmental abnormality Microcephaly Hemiparesis Apraxia Generalized-onset seizure Urinary incontinence Polymicrogyria Neurological speech impairment Intellectual disability, moderate Abnormal facial shape Peripheral neuropathy Limb ataxia Infantile axial hypotonia EEG with abnormally slow frequencies Muscle fibrillation Abnormal cerebellum morphology Irritability Intellectual disability, mild Gait disturbance Myoclonic atonic seizures Eyelid myoclonus Delayed fine motor development EEG with spike-wave complexes (>3.5 Hz) Abnormal brain FDG positron emission tomography Impulsivity Falls Hypsarrhythmia Dyskinesia Mild global developmental delay Leber optic atrophy EEG with irregular generalized spike and wave complexes Poor fine motor coordination Cerebral cortical atrophy Abnormal corpus callosum morphology Cerebellar vermis atrophy Delayed gross motor development Decreased liver function Frequent falls Broad-based gait Intention tremor Nystagmus Pneumonia Atypical absence seizures Developmental stagnation Aspiration pneumonia Aspiration Cyanosis Abnormal pyramidal sign Abnormality of the nervous system Continuous spike and waves during slow sleep



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