Intellectual disability, and Dementia

Diseases related with Intellectual disability and Dementia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

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

A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8 Is also known as epm8|pme type 8|progressive myoclonic epilepsy due to cers1 deficiency|progressive myoclonus epilepsy type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Dementia
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8

Other less relevant matches:

Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016).For a discussion of genetic heterogeneity of ADSD, see ADSD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Dementia
  • Anxiety
  • Mental deterioration
  • Parkinsonism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET BENIGN CHOREA WITH STRIATAL INVOLVEMENT

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Familial adult myoclonic epilepsy-2 is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline (summary by De Fusco et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (OMIM ).

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 Is also known as adcme|bafme2|cortical myoclonic tremor with epilepsy, familial, 2|benign adult familial myoclonic epilepsy 2|cortical myoclonus and epilepsy, autosomal dominant|fcmte2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.

BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY Is also known as adcme|bafme|benign adult familial myoclonic epilepsy 1|autosomal dominant cortical myoclonus and epilepsy|fame|cortical myoclonic tremor with epilepsy, familial, 1|familial adult myoclonic epilepsy|benign adult familial myoclonus epilepsy|familial cortica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Tremor
  • Headache


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

UNVERRICHT-LUNDBORG DISEASE Is also known as uld|progressive myoclonus epilepsy type 1|epm1a|baltic myoclonic epilepsy|epm1|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 1a|progressive myoclonic epilepsy type 1|pme|pme type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about UNVERRICHT-LUNDBORG DISEASE

Medium match SCHIZOPHRENIA; SCZD

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases
Myoclonus Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Generalized tonic-clonic seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Ataxia Abnormality of extrapyramidal motor function Giant somatosensory evoked potentials Mental deterioration

Rare Symptoms - Less than 30% cases

Intellectual disability, moderate Focal-onset seizure Involuntary movements Hand tremor EEG with photoparoxysmal response Depressivity EEG with irregular generalized spike and wave complexes Jerk-locked premyoclonus spikes EEG abnormality Dysarthria Rigidity Poor speech Dyskinesia Bradykinesia Enhancement of the C-reflex Cutaneous photosensitivity Behavioral abnormality Dystonia Anxiety Parkinsonism Chorea Limb ataxia EEG with polyspike wave complexes Olivopontocerebellar atrophy Muscle fibrillation Absence seizures Intention tremor Lafora bodies Neurodegeneration Abnormal facial shape Cerebral atrophy Cogwheel rigidity Shuffling gait Lewy bodies Megalencephaly Resting tremor Slurred speech Morning myoclonic jerks Small for gestational age Microcephaly Delusions Personality disorder Mania Auditory hallucinations Mood swings Borderline personality disorder Preeclampsia Bipolar affective disorder Autism Neurofibrillary tangles Alzheimer disease Akinesia Schizophrenia Increased body weight Hallucinations Psychosis Choreoathetosis Generalized hypotonia Cerebral calcification Restlessness Atrophy/Degeneration affecting the brainstem Blepharospasm Focal impaired awareness seizure Delayed gross motor development Parkinsonism with favorable response to dopaminergic medication Abnormal corpus striatum morphology Athetosis Cerebral hemorrhage Striatal T2 hyperintensity Increased serum lactate Inability to walk Severe global developmental delay Muscular hypotonia of the trunk Absent speech Intellectual disability, severe Abnormality of the cerebral vasculature Headache Hyperreflexia Delayed speech and language development Stroke Abnormality of movement Neurological speech impairment Paresthesia Frontal bossing Macrocephaly Coma Strabismus Migraine Cortical myoclonus Amaurosis fugax Kinetic tremor Loss of consciousness Sensory impairment Generalized-onset seizure Generalized myoclonic seizures Social and occupational deterioration


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