Intellectual disability, and Migraine

Diseases related with Intellectual disability and Migraine

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

Top matches:

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abetal34v-related amyloidosis|abeta amyloidosis, piedmont type|hchwa, piedmont type|hereditary cerebral hemorrhage with amyloidosis, piedmont type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Behavioral abnormality
  • Dementia
  • Stroke


SOURCES: ORPHANET MENDELIAN

More info about ABETAL34V AMYLOIDOSIS

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

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

Other less relevant matches:

Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

FAMILIAL PAROXYSMAL ATAXIA Is also known as episodic ataxia type 2

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Dysarthria
  • Behavioral abnormality


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PAROXYSMAL ATAXIA

Medium match DRAVET SYNDROME

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

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

PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Migraine

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability and Migraine. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hemiplegia Paresthesia Dysarthria Generalized tonic-clonic seizures Cognitive impairment Dystonia Tremor Behavioral abnormality Choreoathetosis Hemiparesis Intellectual disability, mild Generalized-onset seizure Fever Hearing impairment Diplopia Mental deterioration Gait ataxia Coma Episodic ataxia Stroke Generalized hypotonia Abnormal cerebellum morphology

Rare Symptoms - Less than 30% cases

Photophobia Paroxysmal dyskinesia Tinnitus Dysmetria Vomiting Intellectual disability, moderate Vertigo Autistic behavior Myoclonus Edema Microcephaly Delayed speech and language development Motor delay Cerebral atrophy Hyperactivity EEG abnormality Developmental regression Focal-onset seizure Atonic seizures Progressive microcephaly Confusion Dysphasia Absence seizures Depressivity Anxiety Migraine without aura Abnormality of movement Involuntary movements Chorea Status epilepticus Migraine with aura Drowsiness Loss of consciousness Transient unilateral blurring of vision Spasticity Hyperreflexia Abnormal pyramidal sign Focal impaired awareness seizure Muscle weakness Dyskinesia Action tremor Torsion dystonia Abnormality of the head Anemia Limb dysmetria Reticulocytosis Psychotic episodes Hand tremor Impulsivity Aggressive behavior Irritability Falls Specific learning disability Hyperactive deep tendon reflexes Frequent falls Lower limb spasticity Limb ataxia Horizontal nystagmus Slurred speech Hemolytic anemia Dry skin Paroxysmal dystonia Retinal dystrophy Autism Neonatal hypotonia Proteinuria Abnormality of the kidney Attention deficit hyperactivity disorder Prominent nasal bridge Arachnodactyly Vesicoureteral reflux Rod-cone dystrophy Renal agenesis Aganglionic megacolon Low anterior hairline Chronic kidney disease Hyperuricemia Chronic constipation Oval face Narrow mouth Constipation Jerky head movements Congenital cataract Focal aware seizure Upper limb dysmetria Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Sensorineural hearing impairment Cataract Areflexia Auditory hallucinations Obesity Polyneuropathy Urinary incontinence Bilateral sensorineural hearing impairment Progressive hearing impairment Progressive sensorineural hearing impairment Arnold-Chiari type I malformation Hydrocele testis Kyphosis Dyscalculia Obtundation status Visual hallucinations Spastic paraplegia Torticollis Nausea and vomiting Paroxysmal choreoathetosis Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Progressive spastic paraplegia Brisk reflexes Spastic paraparesis Paraparesis Clonus Dehydration Postural instability Paraplegia Babinski sign Muscular hypotonia Gait disturbance Episodic quadriplegia Abnormal autonomic nervous system physiology Tetraparesis Parkinsonism Tetraplegia Abnormality of eye movement Abnormality of the eye Rigidity Abnormality of the cerebral vasculature Cerebral hemorrhage Sensory impairment Dementia Cerebellar vermis atrophy Encephalopathy Agitation Apraxia Hallucinations Psychosis Retinal degeneration Cerebellar atrophy Pain Personality disorder Borderline personality disorder Phonophobia Restlessness Severe hearing impairment Blurred vision Aphasia Intention tremor Nausea Severe global developmental delay Blindness Psychomotor retardation Focal clonic seizures Hemiclonic seizures Multifocal seizures Generalized tonic-clonic seizures with focal onset Neurodevelopmental delay Cerebral visual impairment Postnatal microcephaly Cutaneous photosensitivity Abnormality of extrapyramidal motor function Epileptic encephalopathy Febrile seizures Generalized myoclonic seizures Moderate receptive language delay


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