Intellectual disability, and Developmental regression

Diseases related with Intellectual disability and Developmental regression

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

Top matches:

This is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function (Steinfeld et al., 2009).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Developmental regression
  • Neurodegeneration
  • Leukodystrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NEURODEGENERATIVE SYNDROME DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY

Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012).For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5

Childhood-onset epileptic encephalopathy (EEOC) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability (summary by Carvill et al., 2013).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Fever
  • Encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC

Other less relevant matches:

X-linked autism-6 is a neurodevelopmental disorder that affects only males. Some patients may respond favorably to carnitine supplementation (summary by Ziats et al., 2015).Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of heterogeneity of autism, see {209850}.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6 Is also known as tmlhed|epsilon-trimethyllysine hydroxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ptosis
  • Delayed speech and language development
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL INFANTILE MYOCLONIC EPILEPSY

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

IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). Genetic Heterogeneity of Infantile or Early Childhood Epileptic EncephalopathySee also IECEE2 (OMIM ), caused by mutation in the GABRB2 gene (OMIM ) on chromosome 5q34, and IECEE3 (OMIM ), caused by mutation in the ATP6V1A gene (OMIM ) on chromosome 3q13.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1

Early infantile epileptic encephalopathy-34 is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34

Top 5 symptoms//phenotypes associated to Intellectual disability and Developmental regression

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Epileptic encephalopathy Uncommon - Between 30% and 50% cases
Focal-onset seizure Uncommon - Between 30% and 50% cases
Generalized myoclonic seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy Absence seizures Status epilepticus Generalized hypotonia Generalized tonic-clonic seizures Aggressive behavior Myoclonus Atonic seizures Autistic behavior Febrile seizures Cerebral atrophy

Rare Symptoms - Less than 30% cases

Mental deterioration Dysarthria Muscle fibrillation Delayed speech and language development Absent speech Tremor Attention deficit hyperactivity disorder Photosensitive tonic-clonic seizures Autism Spasticity Gait disturbance Behavioral abnormality Cognitive impairment Ataxia Abnormality of movement Cerebellar atrophy Hyperreflexia Rigidity Nystagmus EEG with irregular generalized spike and wave complexes Delayed fine motor development Cerebral visual impairment Choreoathetosis Apnea Hemiclonic seizures Generalized tonic-clonic seizures with focal onset Excessive salivation Delayed CNS myelination Postnatal microcephaly Inability to walk Abnormal pyramidal sign Multifocal seizures Hypertelorism Multifocal epileptiform discharges Hypsarrhythmia Delayed myelination Unsteady gait Talipes Visual impairment Abnormal facial shape Leber optic atrophy Falls Language impairment Large for gestational age Neurodegeneration Leukodystrophy Folate deficiency Depressivity Psychosis Personality disorder Fever EEG abnormality Cutaneous photosensitivity Ptosis Atrial septal defect Narrow mouth Short philtrum Large forehead Clumsiness Hyperactivity Abnormality of the cerebral white matter Poor speech Focal impaired awareness seizure Scoliosis Impulsivity Abnormal brain FDG positron emission tomography EEG with spike-wave complexes (>3.5 Hz) Eyelid myoclonus EEG with abnormally slow frequencies Myoclonic atonic seizures Intellectual disability, mild Irritability Abnormal cerebellum morphology Decreased head circumference


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