Peripheral neuropathy, and Focal seizures, afebril

Diseases related with Peripheral neuropathy and Focal seizures, afebril

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


Top matches:

Medium match TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME


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

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3


Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 Is also known as bfic3|bfnis|convulsions, benign familial infantile, 3|seizures, benign familial neonatal-infantile

Related symptoms:

  • Seizures
  • Fever
  • Apnea
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Low match INFANTILE CONVULSIONS AND CHOREOATHETOSIS


Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

Related symptoms:

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

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Other less relevant matches:

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2


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

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Low match BILATERAL PARASAGITTAL PARIETO-OCCIPITAL POLYMICROGYRIA


Related symptoms:

  • Seizures
  • Peripheral neuropathy
  • Ventriculomegaly
  • Aggressive behavior
  • Polymicrogyria


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BILATERAL PARASAGITTAL PARIETO-OCCIPITAL POLYMICROGYRIA

Low match PAROXYSMAL KINESIGENIC DYSKINESIA


Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.

PAROXYSMAL KINESIGENIC DYSKINESIA Is also known as dystonia 10|pkd|paroxysmal kinesigenic choreathetosis|dystonia, familial paroxysmal|pkc|familial paroxysmal kinesigenic dyskinesia|familial pkd|paroxysmal kinesigenic dyskinesia|dyt10|paroxysmal kinesigenic choreoathetosis

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Dystonia
  • Myoclonus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL KINESIGENIC DYSKINESIA

Low match SPINOCEREBELLAR ATAXIA 10; SCA10


The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 10; SCA10

Low match EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME


PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

Low match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Focal seizures, afebril

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Focal-onset seizure Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Focal impaired awareness seizure Uncommon - Between 30% and 50% cases
Dyskinesia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Migraine Dystonia Choreoathetosis Global developmental delay Paroxysmal dyskinesia Paroxysmal dystonia Generalized-onset seizure Generalized hypotonia Aggressive behavior Dysarthria Cyanosis Cognitive impairment Involuntary movements Intellectual disability Developmental regression Hyperreflexia Dysmetria Optic atrophy Nystagmus

Rare Symptoms - Less than 30% cases


Normal interictal EEG Febrile seizures Spasticity Atonic seizures Tremor Cerebellar atrophy Abnormality of the face Intellectual disability, mild Loss of consciousness Dysphagia Gait ataxia Writer's cramp EEG abnormality Paroxysmal choreoathetosis Hypoplasia of the corpus callosum Apnea Generalized tonic-clonic seizures Hypoparathyroidism Intention tremor Limb ataxia Chorea Paresthesia Abnormality of movement Short stature Myoclonus Muscle weakness Dysdiadochokinesis Abnormal pyramidal sign Morphological abnormality of the pyramidal tract Urinary urgency Personality changes Polyneuropathy Decreased nerve conduction velocity Incoordination Abnormality of eye movement Abnormality of extrapyramidal motor function Urinary incontinence Unsteady gait Progressive cerebellar ataxia Ophthalmoplegia Abnormality of the head Retinopathy Neoplasm Polymicrogyria Status epilepticus Hallucinations Sensorimotor neuropathy Visual hallucinations Delirium Cerebral palsy Dementia Athetosis Hyperventilation Neoplasm of the endocrine system Orofacial dyskinesia Focal sensory seizure Scoliosis Depressivity Scanning speech Severe muscular hypotonia Growth delay Lower limb spasticity Jerky head movements Limb dysmetria Mental deterioration Migraine without aura Irritability Falls Hemolytic anemia Specific learning disability Frequent falls Progressive microcephaly Cerebral atrophy Horizontal nystagmus Absence seizures Slurred speech Hemiplegia Impulsivity Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Episodic ataxia Intellectual disability, moderate Anemia Skeletal muscle atrophy Spinal muscular atrophy Encephalopathy Peripheral axonal neuropathy Distal amyotrophy Tetraplegia Spastic tetraplegia Foot dorsiflexor weakness Torsion dystonia Spastic tetraparesis Mutism Progressive encephalopathy Focal aware seizure Spastic ataxia Progressive spastic paraparesis Anarthria Difficulty standing EMG: chronic denervation signs Abnormality of nasopharyngeal adenoids Iron accumulation in substantia nigra Hypoglycorrhachia Microcephaly Upper limb dysmetria Ventriculomegaly Beaking of vertebral bodies Localized skin lesion Hepatomegaly Fever Muscle fibrillation Generalized tonic-clonic seizures with focal onset Anxiety Stereotypy Pallor Hearing impairment Low-set ears Depressed nasal bridge Macrocephaly Impaired distal proprioception Frontal bossing Abnormality of the skeletal system Anteverted nares Short neck Edema Behavioral abnormality Kyphosis Inguinal hernia Prominent forehead High myoinositol in brain by MRS Autonomic bladder dysfunction Proptosis Leukodystrophy Myopia Babinski sign Cerebellar hypoplasia Cerebral cortical atrophy Deeply set eye Delayed puberty Delayed eruption of teeth Hypodontia Clumsiness Hypogonadotrophic hypogonadism Abnormality of ocular smooth pursuit Drooling Oligodontia CNS hypomyelination Postural tremor Impaired vibration sensation in the lower limbs Spastic dysarthria Upper motor neuron dysfunction Abnormality of the basal ganglia Positive Romberg sign Vertical supranuclear gaze palsy Hyperactivity Mandibular prognathia Dysplastic aortic valve Abnormality of the optic disc Insomnia Abnormality of the skull Edema of the lower limbs Communicating hydrocephalus Increased mean corpuscular volume Thoracolumbar kyphosis Inspiratory stridor Hypochromic anemia Hyperplasia of the maxilla J-shaped sella turcica Distal arthrogryposis Obstructive lung disease Morphological abnormality of the central nervous system Heparan sulfate excretion in urine Urinary glycosaminoglycan excretion Anisopoikilocytosis Short digit Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Intervertebral space narrowing Protuberant abdomen Protruding tongue Dyspnea Limitation of joint mobility Kyphoscoliosis Coarse facial features Umbilical hernia Hepatosplenomegaly Postnatal growth retardation Joint stiffness Tachycardia Ascites Macroglossia Abnormality of the cardiovascular system Pericardial effusion Mitral valve prolapse Pulmonary arterial hypertension Recurrent otitis media Mitral regurgitation Thickened skin Progressive hearing impairment Tachypnea Increased intracranial pressure Recurrent upper respiratory tract infections Heart murmur Generalized tonic-clonic seizures without focal onset



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