Intellectual disability, and Chorea

Diseases related with Intellectual disability and Chorea

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

Top matches:

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Poor speech
  • Chorea
  • Involuntary movements


SOURCES: OMIM MENDELIAN

More info about CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR

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

Other less relevant matches:

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.

GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME Is also known as generalized epilepsy and paroxysmal dyskinesia|gepd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME

Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar.The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.'

CATARACT 11, MULTIPLE TYPES; CTRCT11 Is also known as cataract, posterior polar, 4|cpp4|ctpp4

Related symptoms:

  • Intellectual disability
  • Cataract
  • Blindness
  • Hypertonia
  • Microphthalmia


SOURCES: OMIM MESH MENDELIAN

More info about CATARACT 11, MULTIPLE TYPES; CTRCT11

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Spasticity
  • Myoclonus
  • Cerebral cortical atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40

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

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

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

Symptoms // Phenotype % cases
Choreoathetosis Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized tonic-clonic seizures Hyperreflexia Dyskinesia Anxiety Paroxysmal dyskinesia Involuntary movements Spasticity Dysarthria

Rare Symptoms - Less than 30% cases

Headache Migraine Myoclonus Nystagmus Hypertonia Tetraparesis Delayed gross motor development Parkinsonism Mental deterioration Ataxia Abnormality of movement Muscular hypotonia of the trunk Generalized-onset seizure Cognitive impairment Depressivity Spastic tetraparesis Abnormality of eye movement Status epilepticus Hemiparesis Tetraplegia Abnormality of the eye Rigidity Hemiplegia Loss of consciousness Orofacial dyskinesia Episodic quadriplegia Abnormal autonomic nervous system physiology Dilated cardiomyopathy Gait disturbance Progressive spastic paraplegia Resting tremor Congestive heart failure Cardiomyopathy Tremor Motor delay Paroxysmal choreoathetosis Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Limb hypertonia Myokymia Episodic ataxia Brisk reflexes Babinski sign Spastic paraparesis Paraparesis Clonus Diplopia Dehydration Postural instability Paresthesia Paraplegia Hypsarrhythmia Spastic paraplegia Difficulty walking Abnormal pyramidal sign Intellectual disability, profound Lower limb spasticity Epileptic encephalopathy Coma Dementia Abnormal head movements Dyscalculia Poor speech Renal tubular dysfunction Hemiplegia/hemiparesis Hyperammonemia Pancreatitis Sepsis Neutropenia Abnormal corpus striatum morphology Nausea and vomiting Lethargy Thrombocytopenia Renal insufficiency Respiratory distress Optic atrophy Hepatomegaly Anemia Muscular hypotonia Growth delay Parkinsonism with favorable response to dopaminergic medication Striatal T2 hyperintensity Cerebral cortical atrophy Delayed speech and language development Pica Progressive spasticity Spastic diplegia Impulsivity Self-injurious behavior Poor head control Stereotypy Aggressive behavior Absent speech Behavioral abnormality Short stature Strabismus Polar cataract Posterior polar cataract Hyporeflexia Microphthalmia Blindness Cataract EEG with spike-wave complexes (>3.5 Hz) Intellectual disability, borderline Absence seizures Esotropia Facial myokymia


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