Ataxia, and Hyperactivity

Diseases related with Ataxia and Hyperactivity

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43

Medium match GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY


Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56


EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

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Other less relevant matches:

Medium match AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4


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, stereotypical, 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).Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 Is also known as chromosome xp22 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4

Medium match FAMILIAL INFANTILE MYOCLONIC 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

Medium match COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT

Medium match 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA


2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA Is also known as alpha-aminoadipic aciduria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

Medium match SPINOCEREBELLAR ATAXIA 14; SCA14


Related symptoms:

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 14; SCA14

Medium match SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


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

Top 5 symptoms//phenotypes associated to Ataxia and Hyperactivity

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Attention deficit hyperactivity disorder Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Hyperactivity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Myoclonus Aggressive behavior Absence seizures Gait disturbance Dysmetria Generalized myoclonic seizures Autistic behavior Dysarthria Anxiety Muscular hypotonia Nystagmus Generalized tonic-clonic seizures Cognitive impairment

Rare Symptoms - Less than 30% cases


Abnormal cerebellum morphology Clumsiness Motor delay Aciduria Cerebellar atrophy Dystonia Tremor Autism Absent speech Broad-based gait Mental deterioration Intellectual disability, mild Status epilepticus Behavioral abnormality Febrile seizures Hyperreflexia EEG abnormality Self-injurious behavior Progressive cerebellar ataxia Focal dystonia Head tremor Disinhibition Impaired vibratory sensation Memory impairment Chorea Gait ataxia Scanning speech Depressivity Encephalopathy Dysphagia Aminoaciduria Dyskinesia Cataplexy Myokymia Obsessive-compulsive behavior Hyperkinesis Abnormality of eye movement Oculomotor apraxia Hallucinations Choreoathetosis Psychosis Apraxia Sleep disturbance Abnormality of the eye Impaired vibration sensation at ankles Intellectual disability, moderate Abnormality of the nervous system Hyporeflexia Abnormality of metabolism/homeostasis Strabismus Microcephaly Facial myokymia Emotional lability Esophoria Tics Cerebellar hypoplasia Intellectual disability, profound Hypoplasia of the corpus callosum Involuntary movements Infantile muscular hypotonia Motor tics Impulsivity Abnormality of movement Self-mutilation Progressive extrapyramidal movement disorder Scoliosis Atrial septal defect Eyelid fasciculation Obsessive-compulsive trait Poor coordination Rigidity Inability to walk Gaze-evoked nystagmus Muscle fibrillation Optic nerve hypoplasia Amblyopia Epileptic encephalopathy EEG with irregular generalized spike and wave complexes Delayed fine motor development Photosensitive tonic-clonic seizures Leber optic atrophy Language impairment Abnormal pyramidal sign Hypsarrhythmia Focal-onset seizure Irritability Developmental regression Intellectual disability, severe Hypertonia Vegetative state Paroxysmal dystonia



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