Hyperreflexia, and Headache

Diseases related with Hyperreflexia and Headache

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

Top matches:

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Related symptoms:

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

Other less relevant matches:

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

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 36 Is also known as sca36|asidan

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 36

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

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Headache

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Myoclonus Dystonia Babinski sign Choreoathetosis Tremor Intellectual disability Mental deterioration Incoordination Nystagmus Paroxysmal dyskinesia Microcephaly Slurred speech Hypertonia Gait ataxia Vertigo Neuronal loss in central nervous system Memory impairment Difficulty walking Confusion Muscle weakness Rigidity Hyperkinesis Intellectual disability, moderate Muscle stiffness Blurred vision Paresthesia Migraine Dyskinesia Diplopia Involuntary movements Generalized tonic-clonic seizures Episodic ataxia Gait disturbance

Rare Symptoms - Less than 30% cases

Chorea Limb ataxia Lower limb spasticity Cerebellar vermis atrophy Specific learning disability Focal-onset seizure Dysmetria Falls Paralysis Abnormality of movement Encephalopathy Absence seizures Irritability EEG abnormality Peripheral neuropathy Progressive microcephaly Fasciculations Unsteady gait Depressivity Muscle fibrillation Language impairment Abnormality of the eye Truncal ataxia Abnormality of eye movement Global developmental delay Hemiparesis Dysdiadochokinesis Visual impairment Focal impaired awareness seizure Pain Hearing impairment Neurodegeneration Hypoglycorrhachia Paroxysmal dystonia Hand tremor Atonic seizures CNS demyelination Behavioral abnormality Generalized hypotonia Delusions Personality changes Spastic gait Paraparesis Dysphagia Cyanosis Postural instability Paraplegia Apraxia Poor speech Dementia Spastic paraplegia Hyperactive deep tendon reflexes Hypomagnesemia Abnormal pyramidal sign Spastic paraparesis Muscle cramps Inability to walk Increased CSF protein Loss of Purkinje cells in the cerebellar vermis Nausea Visual hallucinations Supranuclear gaze palsy Dysesthesia Normal pressure hydrocephalus Flexion contracture Paroxysmal lethargy Elevated serum creatine phosphokinase Apathy Visual field defect Progressive cerebellar ataxia Esotropia Aphasia Cerebral palsy Abnormality of the hand Postural tremor Cerebral visual impairment Hallucinations Gliosis Tetany Abnormal cerebellum morphology Myokymia Anxiety Reduced visual acuity Loss of facial expression Hirano bodies Paroxysmal involuntary eye movements Intellectual disability, severe Generalized myoclonic seizures Sleep disturbance Lethargy Impaired smooth pursuit Apnea Muscular hypotonia of the trunk Abnormality of metabolism/homeostasis Slow saccadic eye movements Bowel incontinence Fatigue Delayed speech and language development Head tremor Tongue fasciculations Olivopontocerebellar atrophy Strabismus Limb myoclonus Epileptic encephalopathy Status epilepticus Generalized hyperreflexia Attention deficit hyperactivity disorder Extrapyramidal muscular rigidity Tongue atrophy Ptosis Extrapyramidal dyskinesia Skeletal muscle atrophy Cerebellar atrophy Abnormal erythrocyte morphology Parkinsonism Postnatal microcephaly Intention tremor Atypical absence seizures Central apnea Drowsiness Progressive hearing impairment Sleep apnea Amyotrophic lateral sclerosis Recurrent infections Generalized tonic-clonic seizures without focal onset Myopathy Agnosia Frontotemporal dementia Lewy bodies Shuffling gait Primitive reflex Dysgraphia Anarthria Dyscalculia Limb apraxia Lower limb hyperreflexia Optic ataxia Ventriculomegaly Obesity Autistic behavior Generalized muscle weakness Moderate global developmental delay Abnormal myelination Hypermagnesiuria Neurofibrillary tangles Dysphasia Intellectual disability, mild Cerebral cortical atrophy Dehydration Clonus Brisk reflexes Progressive spastic paraplegia Morphological abnormality of the pyramidal tract Progressive spastic paraparesis Paroxysmal choreoathetosis Abnormality of the cerebral white matter Alzheimer disease Ophthalmoplegia Brain atrophy Abnormality of extrapyramidal motor function Psychosis Tetraparesis Spastic tetraparesis Leukoencephalopathy Mutism Anemia Cerebral atrophy Blindness Hepatitis Brain neoplasm Urinary hesitancy Growth delay Fever Abnormality of the nervous system Abnormality of the liver Peripheral demyelination Anorexia Urinary incontinence Aortic regurgitation Gout Homocystinuria Hypertyrosinemia Hypermethioninemia Halitosis Cataract Hydrocephalus Emotional lability Autoimmunity Aggressive behavior Torsion dystonia Hemolytic anemia Generalized-onset seizure Frequent falls Horizontal nystagmus Hemiplegia Impulsivity Reticulocytosis Action tremor Abnormality of the head Scarring Migraine without aura Limb dysmetria Jerky head movements Focal aware seizure Upper limb dysmetria Neoplasm Visual loss Constipation Facial myokymia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Infertility, related diseases and genetic alterations Congestive heart failure and Hypoglycemia, related diseases and genetic alterations