Ataxia, and Cyanosis

Diseases related with Ataxia and Cyanosis

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


Top matches:

High match PHOSPHOHYDROXYLYSINURIA; PHLU


Phosphohydroxylysinuria is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Growth delay
  • Abnormality of the nervous system
  • Cyanosis


SOURCES: OMIM MENDELIAN

More info about PHOSPHOHYDROXYLYSINURIA; PHLU

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52


EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).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
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Medium 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:

Medium match ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY


Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

Medium match EPISODIC ATAXIA, TYPE 1; EA1


Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Medium match ETHYLMALONIC ENCEPHALOPATHY


Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ETHYLMALONIC ENCEPHALOPATHY

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Medium match BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2


Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2

Medium match UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY


UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Ataxia and Cyanosis

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

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

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Apnea Muscular hypotonia of the trunk Hypertonia Status epilepticus Rigidity Focal impaired awareness seizure Headache Hyperreflexia Feeding difficulties Nystagmus Choreoathetosis Encephalopathy Babinski sign Fever Tremor Generalized tonic-clonic seizures Epileptic encephalopathy

Rare Symptoms - Less than 30% cases


Myoclonus Intellectual disability, severe Sensory axonal neuropathy Dysarthria Visual impairment Dystonia Delayed speech and language development Respiratory failure Muscle weakness Fasciculations Mental deterioration Central apnea Absent speech Abnormality of metabolism/homeostasis Abnormality of the nervous system Episodic ataxia Muscle stiffness Gait ataxia Respiratory insufficiency Respiratory distress Atypical absence seizures Generalized myoclonic seizures Muscular hypotonia Involuntary movements Dysphagia Cerebellar atrophy Hyperkinesis Paralysis Limb muscle weakness Hypoplasia of the corpus callosum Clonus Incoordination Visual loss Slurred speech Postnatal microcephaly Peripheral neuropathy High palate Epicanthus Brachycephaly Long philtrum Premature closure of fontanelles Clinodactyly Clinodactyly of the 5th finger Cerebellar hypoplasia Generalized-onset seizure Increased neuronal autofluorescent lipopigment Dementia Focal T2 hyperintense basal ganglia lesion Ethylmalonic aciduria Low-set ears Wide nasal bridge Cardiomyopathy Myopathy Cerebral atrophy Rod-cone dystrophy Peripheral axonal neuropathy Intracellular accumulation of autofluorescent lipopigment storage material Gliosis Nevus Neuronal loss in central nervous system Cytochrome C oxidase-negative muscle fibers Sloping forehead Bradycardia Intellectual disability, progressive Retinal atrophy Loss of speech Pallor Titubation Dysmetria Neck muscle weakness Bilateral sensorineural hearing impairment Split hand Clumsiness Sensorimotor neuropathy Foot dorsiflexor weakness Exercise intolerance Dysphonia Generalized amyotrophy Hypokinesia Bulbar palsy Hypoventilation Distal muscle weakness Hearing abnormality Facial paralysis Organic aciduria Tongue fasciculations Decreased plasma carnitine Axial muscle weakness Vertical nystagmus Abnormality of eye movement Hypodontia Multifocal seizures Sensory neuropathy Facial palsy Thin vermilion border Delayed ability to walk Flat face Abnormal cerebellum morphology Broad-based gait Horizontal nystagmus Finger clinodactyly Tented upper lip vermilion Optic nerve hypoplasia Oral-pharyngeal dysphagia Agitation Ankle clonus Broad face Aggressive behavior Ecchymosis Truncal titubation Hearing impairment Scoliosis Sensorineural hearing impairment Optic atrophy Kyphosis Areflexia Reduced visual acuity Dyspnea Kyphoscoliosis Tethered cord Abnormality of the hand Abnormality of the retinal vasculature Lethargy Occipital neuralgia Strabismus Cognitive impairment Fatigue Behavioral abnormality Difficulty walking EEG abnormality Intellectual disability, moderate Abnormality of the eye Abnormality of movement Inspiratory stridor Poor speech Confusion Falls Dyskinesia Sleep disturbance Chorea Focal-onset seizure Specific learning disability Apraxia Cervical myelopathy Bulbar signs Progressive microcephaly Hemiclonic seizures Growth delay Progressive neurologic deterioration Pneumonia Abnormal pyramidal sign Febrile seizures Limb ataxia Aspiration Aspiration pneumonia Developmental stagnation Hydrocephalus Myelomeningocele Agenesis of corpus callosum Heterotopia Spina bifida Arnold-Chiari malformation Stridor Opisthotonus Partial agenesis of the corpus callosum Weak cry Syringomyelia Hemiparesis Absence seizures Acrocyanosis Diarrhea Postural tremor Blurred vision Muscle fibrillation Cerebellar vermis atrophy Hypomagnesemia Tetany Myokymia Facial myokymia Failure to thrive Acidosis Spastic gait Developmental regression Lactic acidosis Increased serum lactate Aciduria Abnormality of extrapyramidal motor function Chronic diarrhea Neurodevelopmental delay Petechiae Arnold-Chiari type I malformation Cerebral palsy Esotropia Sleep apnea Paroxysmal involuntary eye movements Language impairment Atonic seizures Drowsiness Paroxysmal dyskinesia Paroxysmal dystonia Abnormal erythrocyte morphology Extrapyramidal dyskinesia Generalized hyperreflexia Hypoglycorrhachia Paroxysmal lethargy Progressive cerebellar ataxia Pain Flexion contracture Elevated serum creatine phosphokinase Unsteady gait Vertigo Nausea Inability to walk Postural instability Muscle cramps Focal clonic seizures



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