Ataxia, and Ventriculomegaly

Diseases related with Ataxia and Ventriculomegaly

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


Top matches:

Low match JOUBERT SYNDROME 31; JBTS31


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A


Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

Low match FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED


Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Is also known as dementia, hereditary dysphasic disinhibition|ftld-tdp, grn-related|frontotemporal dementia with tdp43 inclusions, grn-related|ftldu|frontotemporal lobar degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive|ftdu|hddd

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dysphagia
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59

Low match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

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 FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 9


A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, venticulomegaly, interhemispheric cysts, and simplified gyration (frontally).

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 9 Is also known as epm9|progressive myoclonic epilepsy due to lmnb2 deficiency|pme type 9|progressive myoclonus epilepsy type 9

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 9

Low match BILATERAL FRONTOPARIETAL POLYMICROGYRIA


Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Low match HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA


Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

Top 5 symptoms//phenotypes associated to Ataxia and Ventriculomegaly

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

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

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Hyperreflexia Abnormal pyramidal sign Mutism Tremor Abnormality of the cerebral white matter Cerebral atrophy Apraxia Abnormality of eye movement Strabismus Cognitive impairment

Rare Symptoms - Less than 30% cases


Spasticity Neurofibrillary tangles Memory impairment Neuronal loss in central nervous system Delayed speech and language development Dysarthria Alzheimer disease Hypoplasia of the corpus callosum Senile plaques Frontotemporal dementia Gliosis Esotropia Astrocytosis Dysmetria Inappropriate behavior Gait ataxia Scoliosis Absent speech Brain atrophy Personality changes Parkinsonism Dementia Progressive neurologic deterioration Neurodegeneration Truncal ataxia Oculomotor apraxia Dysphagia Behavioral abnormality Leukoencephalopathy Cerebellar atrophy Myoclonus Rigidity Cerebral cortical atrophy Status epilepticus Sinus bradycardia Dilatation Agenesis of corpus callosum Left ventricular noncompaction Cardiomyopathy Congestive heart failure Left ventricular failure Skeletal muscle atrophy Skeletal myopathy Atrial flutter Myopathy Premature atrial contractions Paroxysmal ventricular tachycardia Reduced systolic function Abnormal EKG Arrhythmia Ventricular fibrillation Cardiomegaly Lipodystrophy Ventricular hypertrophy Atrial fibrillation Bradycardia Ventricular arrhythmia Atrioventricular block Increased variability in muscle fiber diameter Dilated cardiomyopathy Bundle branch block Pericardial effusion Abnormality of the thyroid gland Amyloidosis Thromboembolism Chest pain Sudden cardiac death Myocarditis Short thumb Ankle clonus Generalized amyotrophy Muscle stiffness Depressivity Difficulty walking Confusion Postural instability Peripheral demyelination Bradykinesia Abnormality of extrapyramidal motor function Leukodystrophy Decreased number of peripheral myelinated nerve fibers Polymicrogyria, anterior to posterior gradient Atrophy/Degeneration affecting the brainstem Insomnia Shuffling gait CNS demyelination Vegetative state Restless legs Diffuse leukoencephalopathy Frontal lobe dementia Gait disturbance Frontoparietal polymicrogyria Microglossia Abnormal cerebellum morphology Microcephaly Intellectual disability, severe Hypertonia Babinski sign Cerebellar hypoplasia Intellectual disability, moderate Muscular dystrophy Polymicrogyria Broad-based gait Cerebral dysmyelination Pachygyria Exotropia Lissencephaly Congenital muscular dystrophy Hypoplasia of the brainstem Pain Type II lissencephaly Nonprogressive cerebellar ataxia Perisylvian polymicrogyria Fatigue Dysdiadochokinesis Retinal thinning Dysgraphia Dysphasia Polyphagia Restlessness Lewy bodies Dyslexia Dilation of lateral ventricles Disinhibition Perseveration Global brain atrophy Dyscalculia Hyperorality Bulimia Hypersexuality Progressive language deterioration Limb apraxia Diminished motivation Repetitive compulsive behavior Aphasia Agitation Aggressive behavior Diffuse swelling of cerebral white matter Molar tooth sign on MRI Macrocephaly Mental deterioration Progressive cerebellar ataxia Megalencephaly Motor deterioration Diffuse white matter abnormalities Paralysis Amyotrophic lateral sclerosis Hemiparesis Clumsiness Limb ataxia Hallucinations Language impairment Apathy Akinesia Impulsivity Autism Autistic behavior Cerebellar cyst Retinal dystrophy Retrocerebellar cyst Inferior vermis hypoplasia Abnormality of ocular abduction Muscle weakness Muscular hypotonia Myopia Elevated serum creatine phosphokinase High myopia Limb dysmetria Cerebellar vermis hypoplasia Heterotopia Amblyopia Abnormality of the periventricular white matter Retinal atrophy Abnormally large globe Dilated fourth ventricle Cerebellar dysplasia Functional motor deficit Gaze-evoked horizontal nystagmus Inability to walk Infantile spasms Sleep disturbance Focal-onset seizure Epileptic encephalopathy Hypsarrhythmia Drooling Focal impaired awareness seizure Self-injurious behavior Poor eye contact Difficulty standing Short stature Ptosis Pes planus Neurological speech impairment Polyneuropathy Intellectual disability, profound Horizontal nystagmus Hypometric saccades Frontal release signs



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