Dysarthria, and Focal seizures, afebril

Diseases related with Dysarthria and Focal seizures, afebril

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

Top matches:

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2|convulsions, benign familial infantile, 2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Pallor
  • Generalized tonic-clonic seizures
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Other less relevant matches:

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

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

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016).

INFANTILE-ONSET GENERALIZED DYSKINESIA WITH OROFACIAL INVOLVEMENT Is also known as infantile-onset orofacial-trunk-limbs dyskinesia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE-ONSET GENERALIZED DYSKINESIA WITH OROFACIAL INVOLVEMENT

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 LAFORA DISEASE

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

LAFORA DISEASE Is also known as epm2a|lafora disease|progressive myoclonus epilepsy type 2|lafora body disease|pme type 2|epilepsy, progressive myoclonic, 2a|melf|epm2|lbd|progressive myoclonic epilepsy type 2

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LAFORA DISEASE

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 Dysarthria and Focal seizures, afebril

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Focal-onset seizure Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Focal seizures, afebril. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intention tremor Generalized-onset seizure Dyskinesia Global developmental delay Hyperreflexia Intellectual disability Dysdiadochokinesis Mental deterioration Myoclonus Depressivity Generalized myoclonic seizures Cerebellar atrophy Tremor Nystagmus Focal impaired awareness seizure Febrile seizures Generalized tonic-clonic seizures Unsteady gait Dysmetria Developmental regression Intellectual disability, mild Babinski sign

Rare Symptoms - Less than 30% cases

Dementia Language impairment Absence seizures Delayed fine motor development Hyperkinesis Delayed speech and language development Cerebellar hypoplasia Motor delay Gait ataxia Abnormal cerebellum morphology Apraxia Muscular hypotonia of the trunk Attention deficit hyperactivity disorder Aggressive behavior Status epilepticus Clumsiness Gaze-evoked nystagmus Postural tremor Progressive cerebellar ataxia Gait disturbance Drooling Behavioral abnormality Headache Chorea Brain atrophy Nasogastric tube feeding in infancy Frequent falls Blindness EEG with generalized epileptiform discharges Hyporeflexia Orofacial dyskinesia Hemiballismus Scanning speech Abnormality of metabolism/homeostasis Kinetic tremor Gait imbalance Impaired smooth pursuit Urinary urgency Apathy Lower limb spasticity Sleep disturbance Focal motor seizures Epileptic spasms Visual loss Intellectual disability, moderate Microcephaly Abnormal facial shape Intellectual disability, severe Encephalopathy Hyperactivity Autism EEG abnormality Autistic behavior Visual auras Neurological speech impairment Speech apraxia Polymicrogyria Urinary incontinence Epileptic encephalopathy Hemiparesis Dysphasia Simple partial occipital seizures Lafora bodies Difficulty walking Cutaneous photosensitivity Confusion Hepatic failure Inability to walk Neurodegeneration Aphasia Psychosis Abnormality of movement Progressive neurologic deterioration Giant somatosensory evoked potentials Hallucinations EEG with centrotemporal focal spike waves Visual hallucinations Oromotor apraxia Vegetative state Generalized tonic-clonic seizures with focal onset Agnosia Perisylvian polymicrogyria Falls Poor speech Feeding difficulties CNS hypomyelination Choreoathetosis Cyanosis Migraine Pallor High myoinositol in brain by MRS Impaired distal proprioception Autonomic bladder dysfunction Abnormality of ocular smooth pursuit Vertical supranuclear gaze palsy Positive Romberg sign Abnormality of the basal ganglia Upper motor neuron dysfunction Spastic dysarthria Impaired vibration sensation in the lower limbs Oligodontia Hypertonia Hypogonadotrophic hypogonadism Leukodystrophy Hypodontia Delayed eruption of teeth Delayed puberty Deeply set eye Cerebral cortical atrophy Dystonia Hypoplasia of the corpus callosum Dysphagia Optic atrophy Myopia Peripheral neuropathy Spasticity Loss of consciousness Cerebral atrophy Muscle weakness Truncal ataxia Visual fixation instability Delayed social development Truncal titubation Diffuse cerebellar atrophy Abnormal saccadic eye movements Vertical nystagmus Nonprogressive cerebellar ataxia Titubation Agenesis of cerebellar vermis Cerebellar vermis atrophy Delayed gross motor development Cerebral palsy Oculomotor apraxia Horizontal nystagmus Limb ataxia Rigidity Broad-based gait Short stature EEG with irregular generalized spike and wave complexes Photosensitive tonic-clonic seizures Leber optic atrophy Muscle fibrillation Irritability Frontal release signs Primitive reflex Diffuse cerebral atrophy Emotional lability Personality changes Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Continuous spike and waves during slow sleep


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