Cognitive impairment, and Choreoathetosis

Diseases related with Cognitive impairment and Choreoathetosis

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


Top matches:

Medium match BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6


Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Behavioral abnormality


SOURCES: OMIM MENDELIAN

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6

Medium match ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2


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

Medium match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY


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

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Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37


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

Medium match EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME


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

Medium match BENIGN FAMILIAL INFANTILE EPILEPSY


Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

BENIGN FAMILIAL INFANTILE EPILEPSY Is also known as bfis|benign familial infantile seizures|bfie|benign familial infantile convulsions

Related symptoms:

  • Seizures
  • Muscular hypotonia
  • Fatigue
  • Hypertonia
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL INFANTILE EPILEPSY

Medium match DENTATORUBRAL PALLIDOLUYSIAN ATROPHY


Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.

DENTATORUBRAL PALLIDOLUYSIAN ATROPHY Is also known as dentatorubropallidoluysian atrophy|drpla|naito-oyanagi disease

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENTATORUBRAL PALLIDOLUYSIAN ATROPHY

Medium match DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA


DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Is also known as hrs|ataxia, chorea, seizures, and dementia|haw river syndrome|nod|naito-oyanagi disease|myoclonic epilepsy with choreoathetosis

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

Medium match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C


HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C Is also known as dihydropteridine reductase deficiency|dhpr deficiency|quinoid dihydropteridine reductase deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency|qdpr deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

Medium match PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME


PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Choreoathetosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Myoclonus Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Choreoathetosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Dyskinesia Nystagmus Global developmental delay Abnormality of movement Dementia Parkinsonism Migraine Tremor Abnormality of the eye Involuntary movements Rigidity Generalized hypotonia Cerebral calcification Chorea Gait disturbance Memory impairment

Rare Symptoms - Less than 30% cases


Developmental regression Strabismus Spasticity Truncal ataxia Episodic ataxia Postural instability Encephalopathy Depressivity Abnormality of extrapyramidal motor function Cerebral atrophy Abnormal pyramidal sign Hyperreflexia Muscular hypotonia Cerebellar atrophy Abnormality of eye movement Hallucinations Slurred speech Basal ganglia calcification Neurological speech impairment Headache Generalized tonic-clonic seizures Mental deterioration Hypertonia Dyssynergia Saccadic smooth pursuit Atrophy of the dentate nucleus Oromandibular dystonia Hyperintensity of cerebral white matter on MRI Ophthalmoparesis Gaze-evoked nystagmus Personality changes Blepharospasm Dilatation Peripheral demyelination Optic neuropathy Neuronal loss in central nervous system Dysdiadochokinesis Action tremor Delayed myelination Generalized myoclonic seizures Impaired proprioception Hypertension Fetal cystic hygroma Stage 5 chronic kidney disease Hyperechogenic kidneys Tubulointerstitial nephritis Loss of speech Limb hypertonia Hyperkalemia Nephritis Oculomotor apraxia Amblyopia Frequent falls Apraxia Nephropathy Falls Muscular hypotonia of the trunk Microcephaly Difficulty walking Renal insufficiency Progressive cerebellar ataxia Ptosis Muscle weakness Hyperphenylalaninemia Folate deficiency Excessive salivation Progressive encephalopathy Episodic fever Progressive neurologic deterioration Irritability Dysphagia Limb ataxia Delayed speech and language development Vertigo Hemiplegia Paraparesis Clonus Diplopia Dehydration Paresthesia Paraplegia Spastic paraplegia Babinski sign Episodic quadriplegia Loss of consciousness Abnormal autonomic nervous system physiology Brisk reflexes Hemiparesis Tetraparesis Status epilepticus Generalized-onset seizure Tetraplegia Anxiety Palilalia Visual hallucinations Psychosis Behavioral abnormality Spastic paraparesis Progressive spastic paraplegia Dysmetria Shuffling gait Gait ataxia Hyporeflexia Dysesthesia Reduced consciousness/confusion Dysphasia Abnormality of vision Nausea and vomiting Deeply set eye Fatigue Cogwheel rigidity Lewy bodies Morphological abnormality of the pyramidal tract Megalencephaly Resting tremor Bradykinesia Poor speech Frontal bossing Macrocephaly Epileptic encephalopathy Absent speech Paroxysmal choreoathetosis Paroxysmal dyskinesia Progressive spastic paraparesis Camptocormia



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