Hyperreflexia, and EEG abnormality

Diseases related with Hyperreflexia and EEG abnormality

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Nystagmus
  • Strabismus
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Spasticity
  • Hyperreflexia
  • Encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12

Other less relevant matches:

Low match ALG2-CDG

ALG2-CDG is a form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

ALG2-CDG Is also known as congenital disorder of glycosylation type 1i|cdg ii|cdgii|cdg syndrome type ii|mannosyltransferase 2 deficiency|carbohydrate deficient glycoprotein syndrome type ii|cdg1i|congenital disorder of glycosylation type ii|cdg-ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG2-CDG

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA Is also known as bv-ftd

Related symptoms:

  • Hyperreflexia
  • Gait disturbance
  • Behavioral abnormality
  • Aggressive behavior
  • Mental deterioration


SOURCES: ORPHANET MENDELIAN

More info about BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBRAL AND CEREBELLAR ATROPHY WITH POSTNATAL PROGRESSIVE MICROCEPHALY

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

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

6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2

Top 5 symptoms//phenotypes associated to Hyperreflexia and EEG abnormality

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypsarrhythmia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and EEG abnormality. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Nystagmus Spasticity Epileptic encephalopathy Status epilepticus Cognitive impairment Dystonia Encephalopathy Hypertonia Generalized tonic-clonic seizures Microcephaly Aggressive behavior Delayed speech and language development

Rare Symptoms - Less than 30% cases

Restlessness Visual impairment Dyskinesia Depressivity Myoclonus Psychosis Generalized-onset seizure Abnormality of extrapyramidal motor function Abnormality of the cerebral white matter Focal-onset seizure Apathy Generalized myoclonic seizures Cerebellar atrophy Feeding difficulties Gait ataxia Postnatal microcephaly Dysphagia Febrile seizures Clonus Babinski sign Developmental regression Intention tremor Progressive cerebellar ataxia Lower limb spasticity Dysdiadochokinesis Sleep disturbance Hyperactivity Focal impaired awareness seizure Unsteady gait Absence seizures Hyporeflexia Autism Dysarthria Autistic behavior Intermittent hyperventilation Hemiclonic seizures Bruxism Hyperventilation Atonic seizures Cutaneous photosensitivity Dysmetria Muscular hypotonia Urinary urgency Poor head control Congenital microcephaly Brisk reflexes Cerebral visual impairment Inability to walk Lethargy Difficulty walking Absent speech Blindness Oculogyric crisis Excessive salivation Drowsiness Opisthotonus Agitation Hyperkinesis Gaze-evoked nystagmus Choreoathetosis Bradykinesia Chorea Falls Pallor Rigidity Motor delay Ptosis EEG with generalized epileptiform discharges Focal motor seizures Scanning speech Kinetic tremor Gait imbalance Impaired smooth pursuit Intellectual disability, severe Restrictive behavior Fever Spastic tetraparesis Mental deterioration Behavioral abnormality Gait disturbance Abnormality of coagulation CNS hypomyelination Iris coloboma Coloboma Hepatomegaly Cataract Eyelid fasciculation Epileptic spasms Drooling Tetraparesis Poor speech Cyanosis Muscular hypotonia of the trunk Alternating esotropia Limb hypertonia Athetosis Esotropia Abnormality of eye movement Abnormality of the eye Tremor Flexion contracture Hyperactive deep tendon reflexes Strabismus Irritability Memory impairment Scoliosis Inappropriate behavior Diffuse cerebral atrophy Progressive microcephaly Failure to thrive Emotional blunting EEG with continuous slow activity Collectionism Abulia Lack of insight Hyperorality Frontotemporal cerebral atrophy Dyscalculia Abnormal brain FDG positron emission tomography Perseveration Stereotypy Dysgraphia Disinhibition Astrocytosis Upper motor neuron dysfunction Dyslexia Echolalia Frontotemporal dementia Thickened nuchal skin fold Loss of speech Dysphasia Personality changes Mutism Fasciculations Limb myoclonus


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