Global developmental delay, and Choreoathetosis

Diseases related with Global developmental delay and Choreoathetosis

In the following list you will find some of the most common rare diseases related to Global developmental delay and Choreoathetosis 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

STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL Is also known as bilateral striatal necrosis, infantile, mitochondrial|infantile bilateral striatal necrosis, mitochondrial

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Babinski sign
  • Difficulty walking


SOURCES: OMIM MESH MENDELIAN

More info about STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Other less relevant matches:

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

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

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

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as ssadh deficiency|4-hydroxybutyric aciduria|gaba metabolic defect|gamma-hydroxybutyric aciduria

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.

PYRUVATE DEHYDROGENASE E2 DEFICIENCY Is also known as dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex|pyruvate dehydrogenase complex component e2 deficiency|dihydrolipoyll

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Global developmental delay and Choreoathetosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Choreoathetosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Ataxia Muscular hypotonia Hyperreflexia Rigidity Cognitive impairment Dysarthria Chorea Abnormality of movement Absent speech Myoclonus Motor delay Spasticity

Rare Symptoms - Less than 30% cases

Paroxysmal dystonia Depressivity Anxiety Hyperkinesis Abnormality of the eye Generalized tonic-clonic seizures Apraxia Abnormality of eye movement Generalized myoclonic seizures Status epilepticus Tremor Ptosis Cerebellar atrophy Oculomotor apraxia Developmental regression Dysphagia Strabismus Poor speech Bradykinesia Abnormality of extrapyramidal motor function Parkinsonism Cerebral atrophy Hyperammonemia Self-injurious behavior Poor head control Aggressive behavior Behavioral abnormality Spastic diplegia Absence seizures Growth delay Anemia Hepatomegaly Cataplexy Disinhibition Obsessive-compulsive behavior Optic atrophy Respiratory distress Psychosis Hallucinations Clumsiness Pallor Renal insufficiency Aciduria Thrombocytopenia Sleep disturbance Autistic behavior Intellectual disability, moderate Abnormality of the nervous system EEG abnormality Hypertonia Clonus Falls Lactic acidosis Loss of speech Esotropia Dysmetria Facial palsy Abnormal facial shape Jerky head movements Decreased activity of the pyruvate dehydrogenase complex Generalized dystonia Delayed gross motor development Drooling Neonatal hypotonia Hypsarrhythmia Acidosis Intellectual disability, mild Microcephaly Oculogyric crisis Excessive salivation Drowsiness Restlessness Opisthotonus Agitation Hyperactivity Autism Lethargy Hyporeflexia Tetraplegia Loss of consciousness Hemiplegia Abnormal autonomic nervous system physiology Hemiparesis Tetraparesis Difficulty walking Generalized-onset seizure Migraine Frequent falls Ragged-red muscle fibers Babinski sign Decreased light- and dark-adapted electroretinogram amplitude Paroxysmal choreoathetosis Short stature Mental deterioration Muscular hypotonia of the trunk Headache Lower limb spasticity Stereotypy Impulsivity Pica Episodic quadriplegia Gait disturbance Abnormality of metabolism/homeostasis Cerebral calcification Progressive spasticity Cogwheel rigidity Shuffling gait Lewy bodies Megalencephaly Resting tremor Slurred speech Nausea and vomiting Neutropenia Dyskinesia Renal tubular dysfunction Coma Neurological speech impairment Dementia Frontal bossing Macrocephaly Sepsis Epileptic encephalopathy Pancreatitis Encephalopathy Hemiplegia/hemiparesis Corpus callosum atrophy


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