Hyperreflexia, and Encephalopathy

Diseases related with Hyperreflexia and Encephalopathy

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

Top matches:

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).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
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION Is also known as aspartate-glutamate carrier 1 deficiency|agc1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency|hypomyelination, global cerebral

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION

Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A Is also known as park19, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

Other less relevant matches:

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

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

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

Top 5 symptoms//phenotypes associated to Hyperreflexia and Encephalopathy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Epileptic encephalopathy Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Generalized-onset seizure Cerebral atrophy Microcephaly Ataxia Hypsarrhythmia EEG abnormality Febrile seizures Hypoplasia of the corpus callosum Developmental regression Rigidity Absent speech Cerebellar atrophy Progressive microcephaly Tremor Cognitive impairment Dyskinesia Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases

Hypertonia Status epilepticus Generalized myoclonic seizures Feeding difficulties Limb hypertonia Delayed speech and language development Intellectual disability, severe Generalized tonic-clonic seizures Brain atrophy Visual impairment Cortical gyral simplification Psychosis Focal-onset seizure Nystagmus Delayed myelination Myoclonus Intellectual disability, profound CNS hypomyelination Inability to walk Parkinsonism Involuntary movements Opisthotonus Hypoplasia of the brainstem Poor suck Clonus Gait disturbance Cerebellar hypoplasia Sloping forehead Chorea Babinski sign Ventriculomegaly Abnormality of movement Choreoathetosis Apnea Intermittent hyperventilation Extrapyramidal dyskinesia Optic atrophy Growth delay Brisk reflexes Atrophy/Degeneration affecting the brainstem Infantile spasms Spastic tetraplegia Tetraplegia Coloboma High palate Low-set ears Limb myoclonus Congenital microcephaly Cerebral visual impairment Bruxism Postnatal microcephaly Abnormality of the cerebral white matter Lethargy Difficulty walking Blindness Hypokinesia Abnormal electroretinogram Abnormal cerebellum morphology Retinal degeneration Hemiclonic seizures Absence seizures Hyperventilation Anarthria Esotropia Dysarthria Abnormality of eye movement Abnormality of the eye Intellectual disability, moderate Gait ataxia Abnormal pyramidal sign Flexion contracture Hypometric saccades Athetosis Shuffling gait Visual hallucinations Hypomimic face Resting tremor Global brain atrophy Akinesia Hallucinations Postural instability Cerebral hypomyelination Poor eye contact Atonic seizures Severe muscular hypotonia Bradykinesia Cutaneous photosensitivity Severe global developmental delay Autistic behavior Aggressive behavior Autism Hyperactivity Fever Scoliosis Alternating esotropia Eyelid fasciculation Epileptic spasms Drooling Spastic tetraparesis Tetraparesis Leukoencephalopathy Cyanosis Poor head control Small anterior fontanelle


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