Ataxia, and Heterotopia

Diseases related with Ataxia and Heterotopia

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


Top matches:

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

Low match ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME


Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Low match ARNOLD-CHIARI MALFORMATION TYPE II


Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

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Other less relevant matches:

Low match LISSENCEPHALY 3; LIS3


Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Low match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Low match OROFACIODIGITAL SYNDROME XVI; OFD16


OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Low match JOUBERT SYNDROME 21; JBTS21


Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

Low match PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Low match 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Heterotopia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Motor delay Nystagmus Hypoplasia of the corpus callosum Intellectual disability, severe Agenesis of corpus callosum Ptosis Muscular hypotonia Ventriculomegaly Microcephaly Delayed speech and language development Polymicrogyria Lissencephaly Dysarthria Abnormality of neuronal migration Apnea Spasticity Abnormal facial shape Oculomotor apraxia Cognitive impairment Cerebellar vermis hypoplasia Intellectual disability, mild Hypoplasia of the brainstem Cortical dysplasia

Rare Symptoms - Less than 30% cases


Muscular hypotonia of the trunk Molar tooth sign on MRI Abnormal pyramidal sign Tetraplegia Spastic tetraplegia Absent speech Dilatation Intellectual disability, profound Polydactyly Growth delay Tachypnea Agyria Retinopathy Micropenis Broad philtrum Hearing impairment Short palpebral fissure Gait ataxia Dysmetria Inability to walk Brain atrophy Global brain atrophy Sensorineural hearing impairment Pachygyria Apraxia Cerebellar dysplasia Abnormality of eye movement Abnormality of the cerebral white matter Partial agenesis of the corpus callosum Paralysis Feeding difficulties Failure to thrive Colpocephaly Pneumonia Hyperactivity Cerebral cortical atrophy Respiratory failure Acidosis Small for gestational age Abnormality of the nervous system Prominent metopic ridge Lethargy Ophthalmoplegia Lactic acidosis Metabolic acidosis Coma Increased serum lactate Choreoathetosis Hallux valgus Areflexia Cerebral atrophy Encephalopathy Elongated superior cerebellar peduncle Nephronophthisis Occipital encephalocele Bell-shaped thorax Abnormal pattern of respiration Hydranencephaly Hyperechogenic kidneys Wide cranial sutures Posterior fossa cyst Cerebellar malformation Talipes calcaneovalgus Single naris Wide nasal bridge Frontal bossing Aplasia/Hypoplasia of the ribs Phimosis Anteverted nares Dystonia Periventricular gray matter heterotopia Long philtrum Clumsiness Infantile spasms Hyperammonemia Prominent forehead Hypermetropia Decreased activity of the pyruvate dehydrogenase complex Dolichocephaly Congenital lactic acidosis Low-set, posteriorly rotated ears Chronic lactic acidosis Joint laxity Hyperkeratosis Clinodactyly Flared nostrils Hypospadias Basal ganglia cysts Apneic episodes precipitated by illness, fatigue, stress Obesity Short neck Macrocephaly Micrognathia Scoliosis Thick vermilion border Hyperalaninemia Hypertelorism Preeclampsia Central hypotonia Hyperventilation Infantile muscular hypotonia Plagiocephaly Low anterior hairline Ketosis Mild global developmental delay Mild microcephaly Short attention span Olivopontocerebellar atrophy Increased CSF lactate Breech presentation Episodic ataxia Severe lactic acidosis Gynecomastia Hypsarrhythmia Wide intermamillary distance Highly arched eyebrow High, narrow palate Anophthalmia Thoracic kyphosis Short ribs Blindness Opisthotonus Weak cry Syringomyelia Myelomeningocele Bulbar signs Inspiratory stridor Cervical myelopathy Occipital neuralgia Hypertonia Arnold-Chiari malformation Focal-onset seizure Hemiparesis Cerebral visual impairment Hemianopia Congenital microcephaly Esodeviation Postnatal growth retardation Severe global developmental delay Stridor Spina bifida Sloping forehead Amblyopia Microphthalmia Abnormal cerebellum morphology Retinal dysplasia Muscle weakness Myopia Elevated serum creatine phosphokinase Retinal dystrophy High myopia Abnormality of the periventricular white matter Cyanosis Retinal atrophy Abnormally large globe Dilated fourth ventricle Cerebellar cyst Retinal thinning Dysphagia Hydrocephalus Headache Limb muscle weakness Bulbous nose Narrow forehead Decreased liver function Hamartoma of tongue Ventricular septal defect Hernia Inguinal hernia Retrognathia Postaxial polydactyly Intestinal malrotation Hamartoma Teratoma Sacrococcygeal teratoma Low-set ears Dyspnea Retinal degeneration Pulmonary hypoplasia Renal cyst Dandy-Walker malformation Encephalocele Large fontanelles Hepatic fibrosis Depressed nasal bridge Aplasia of the inferior half of the cerebellar vermis Spontaneous abortion Coarse facial features Microphallus Type I lissencephaly Subependymal nodules Short stature Tremor Cerebellar atrophy Kyphosis Hyporeflexia Short palm Atrophy of the dentate nucleus Hirsutism Small hand Short foot Intention tremor Truncal ataxia Intellectual disability, progressive Dysdiadochokinesis Thoracic scoliosis Abnormality of the neck Abnormality of the cerebral cortex



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Joint hypermobility, related diseases and genetic alterations Motor delay and Protruding ear, related diseases and genetic alterations Macrocephaly and Umbilical hernia, related diseases and genetic alterations Myopathy and Myoclonus, related diseases and genetic alterations Strabismus and Generalized muscle weakness, related diseases and genetic alterations

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