Hyperreflexia, and Generalized myoclonic seizures

Diseases related with Hyperreflexia and Generalized myoclonic seizures

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Other less relevant matches:

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

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME Is also known as spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|asct1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME

MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC

Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei|malignant migrating partial epilepsy of infancy|mmpsi|migrating partial epilepsy of infancy|mpsi|mpei|migrating partial seizures of infancy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.

EARLY MYOCLONIC ENCEPHALOPATHY Is also known as early myoclonic encephalopathy with suppression-bursts

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY MYOCLONIC ENCEPHALOPATHY

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

GM2 GANGLIOSIDOSIS, AB VARIANT Is also known as tay-sachs disease, ab variant|ab variant gm2-gangliosidosis|hexosaminidase activator deficiency|gm2 activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GM2 GANGLIOSIDOSIS, AB VARIANT

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Generalized myoclonic seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay 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 Generalized myoclonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Epileptic encephalopathy Hypertonia Muscular hypotonia of the trunk Progressive microcephaly Microcephaly Myoclonus Status epilepticus Encephalopathy Tetraplegia Hypoplasia of the corpus callosum Dystonia EEG abnormality Ataxia Focal-onset seizure Hypsarrhythmia Spastic tetraplegia Absent speech Cerebral cortical atrophy Cognitive impairment Developmental regression Generalized tonic-clonic seizures Delayed myelination Cerebral atrophy Febrile seizures

Rare Symptoms - Less than 30% cases

Absence seizures Atonic seizures Cyanosis Apnea Hyperactivity Aspiration Dysphagia Intellectual disability, severe Delayed speech and language development Epileptic spasms Focal motor seizures Babinski sign Involuntary movements Muscular hypotonia Abnormality of the eye Spastic tetraparesis Autism Autistic behavior Inability to walk Dysarthria Behavioral abnormality Dementia Mental deterioration Confusion Falls Psychosis Severe global developmental delay Paralysis Postnatal microcephaly Lethargy Chorea Loss of speech Poor head control Infantile axial hypotonia Failure to thrive Abnormal involuntary eye movements Limb dystonia Cherry red spot of the macula Muscle weakness Hyperacusis Primitive reflex Tetraparesis Abnormal pyramidal sign Neurodegeneration Pseudobulbar signs Progressive spastic quadriplegia Exaggerated startle response Motor delay Apathy Anxiety Postnatal growth retardation Inappropriate behavior Blindness Sleep disturbance Glabellar reflex Paroxysmal dyskinesia Incoordination Slurred speech Focal impaired awareness seizure Language impairment Drowsiness Central apnea Paroxysmal dystonia Sleep apnea Atypical absence seizures Abnormal erythrocyte morphology Extrapyramidal dyskinesia Generalized hyperreflexia Hypoglycorrhachia Paroxysmal involuntary eye movements Hyperkinesis Muscle stiffness Punctate periventricular T2 hyperintense foci Difficulty walking Abnormal fear/anxiety-related behavior GM2-ganglioside accumulation Strabismus Fatigue Headache Abnormality of metabolism/homeostasis Intellectual disability, moderate Choreoathetosis Abnormality of movement Poor speech Dyskinesia Focal tonic seizures Specific learning disability Apraxia Hemiparesis Short stature Pneumonia Eyelid myoclonias Abnormality of eye movement Intermittent hyperventilation Hemiclonic seizures Bruxism Hyperventilation Cutaneous photosensitivity Aggressive behavior Fever Scoliosis Alternating esotropia Limb hypertonia Athetosis Esotropia Gait ataxia Abnormality of the cerebral white matter Tremor Flexion contracture Nystagmus Lafora bodies Paranoia Spastic ataxia Mutism Hallucinations Frequent falls Urinary incontinence Progressive cerebellar ataxia Delayed ability to walk Polymicrogyria Irritability Hip dysplasia Nonketotic hyperglycinemia Developmental stagnation Abnormal myelination Hyperglycinemia Vegetative state Abnormal cortical gyration Abnormality of visual evoked potentials Infantile spasms Poor suck Brain atrophy Neonatal hypotonia Recurrent respiratory infections Cerebellar hypoplasia Feeding difficulties Multifocal seizures Flushing Stereotypy Poor eye contact Muscle fibrillation Clonus Neuronal loss in central nervous system Gliosis Congenital microcephaly Severe vision loss Basal ganglia calcification Brisk reflexes Intellectual disability, profound Cerebral calcification Visual impairment Decreased light- and dark-adapted electroretinogram amplitude Paroxysmal lethargy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Low-set, posteriorly rotated ears, related diseases and genetic alterations Hepatomegaly and Ventriculomegaly, related diseases and genetic alterations