Delayed speech and language development, and Choreoathetosis

Diseases related with Delayed speech and language development and Choreoathetosis

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


Top matches:

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

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: UMLS ORPHANET

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO GARD OMIM UMLS

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

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:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

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Other less relevant matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 Is also known as ;coxpd13

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Myopathy


SOURCES: OMIM ORPHANET MONDO UMLS

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Medium match WAISMAN SYNDROME; WSMN

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.

WAISMAN SYNDROME; WSMN Is also known as parkinsonism, early-onset, with mental retardation, basal ganglion disorder with mental retardation;bgmr, wsn;laxova-opitz syndrome; waisman syndrome

Related symptoms:

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


SOURCES: OMIM MONDO MESH UMLS SCTID GARD ORPHANET

More info about WAISMAN SYNDROME; WSMN

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM MONDO GARD UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

Medium match STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (OMIM ) and certain metabolic disorders, including glutaric acidemia I (OMIM ) and methylmalonic aciduria (OMIM ). See also Aicardi-Goutieres syndrome (OMIM ) (Mito et al., 1986; De Meirleir et al., 1995). Genetic Heterogeneity of Stiatonigral DegenerationChildhood-onset striatonigral degeneration (OMIM ) is caused by mutation in the VAC14 gene (OMIM ) on chromosome 16q22.See also adult-onset autosomal dominant striatal degeneration (ADSD ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13.

STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Is also known as infantile bilateral striatal necrosis;ibsn, bilateral striatal necrosis, infantile, striatal degeneration, familial

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET

More info about STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

Medium match EPISODIC ATAXIA TYPE 1

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Motor delay
  • Delayed speech and language development
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET

More info about EPISODIC ATAXIA TYPE 1

Medium match GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1

GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. Hypoglycorrhachia (low CSF glucose, less than 40 mg/dl) and low CSF lactate are essentially diagnostic for the disorder. As more cases with GLUT1 deficiency syndrome were described, the phenotype was broadened to include individuals with ataxia and mental retardation but without seizures, individuals with dystonia and choreoathetosis, and rare individuals with absence seizures and no movement disorder. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT deficiency syndrome-2 (OMIM ) represents the less severe end of the phenotypic spectrum and is associated with paroxysmal exercise-induced dystonia with or without seizures. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement of the motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009).

GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 Is also known as glucose transport defect, blood-brain barrier;de vivo disease; glucose transporter type 1 deficiency; glut-1 deficiency syndrome; glut1-ds

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: MESH ORPHANET OMIM GARD MONDO UMLS

More info about GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Choreoathetosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Athetosis Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Choreoathetosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Autosomal recessive inheritance

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Absent speech Muscular hypotonia of the trunk Seizures Hypertonia Hyperreflexia Lethargy Cognitive impairment Tremor Cerebellar atrophy Encephalopathy Myoclonus Developmental regression Abnormality of movement Epileptic encephalopathy Strabismus Optic atrophy Ataxia Dyskinesia Microcephaly Nystagmus Dysarthria

Rare Symptoms - Less than 30% cases


Nausea Kyphoscoliosis Abnormality of eye movement Specific learning disability Muscle stiffness Clonus Scoliosis Dysphagia Involuntary movements Feeding difficulties Status epilepticus Cyanosis Headache Rigidity Gliosis Respiratory distress Chorea Pica Nausea and vomiting Growth delay Hyperhidrosis Calf muscle hypertrophy Extrapyramidal dyskinesia Diplopia Clumsiness Generalized hyperreflexia Muscle cramps Generalized seizures Vertigo Postural instability Hypoglycorrhachia Developmental stagnation Abnormality of the basal ganglia Paroxysmal involuntary eye movements Blurred vision Paroxysmal lethargy Pendular nystagmus Flexion contracture Motor delay Coarse facial features Visual loss Irritability Inability to walk Myotonia Paralysis Focal seizures Intellectual disability, moderate Generalized myoclonic seizures Confusion Sleep disturbance Apraxia Postnatal microcephaly Hemiparesis Neurodegeneration Progressive microcephaly Absence seizures Focal seizures with impairment of consciousness or awareness Atonic seizures Mental deterioration Central apnea Poor coordination EEG abnormality Babinski sign Paroxysmal dyskinesia Abnormality of metabolism/homeostasis Intellectual disability, severe Infantile onset Paroxysmal dystonia Abnormal erythrocyte morphology Autosomal dominant inheritance Craniofacial disproportion Tip-toe gait Hand clenching Myokymia Slurred speech Neuronal loss in central nervous system Congenital onset Muscle weakness Cerebral atrophy Gait disturbance Progressive spasticity Self-injurious behavior Impulsivity Spastic diplegia Poor head control Stereotypy Lower limb spasticity Aggressive behavior Progressive Behavioral abnormality Skeletal muscle atrophy Short stature Renal tubular dysfunction Hemiplegia/hemiparesis Hyperammonemia Pancreatitis Sepsis Neutropenia Thrombocytopenia Coma Renal insufficiency Hepatomegaly Anemia Muscular hypotonia Myopathy Hyporeflexia Abnormality of the eye Abnormality of extrapyramidal motor function Vomiting Milia Failure to thrive Focal clonic seizures Multifocal seizures Hypodontia Fever Cogwheel rigidity Shuffling gait Lewy bodies Megalencephaly Resting tremor Bradykinesia Decreased nerve conduction velocity Cerebral calcification Parkinsonism Poor speech Acrania Neurological speech impairment Abnormal pyramidal sign Oxycephaly Dementia X-linked recessive inheritance Frontal bossing Macrocephaly Limb dystonia Severe muscular hypotonia Exotropia



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