Ataxia, and Coma

Diseases related with Ataxia and Coma

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


Top matches:

Medium match HYPOGLYCEMIA, LEUCINE-INDUCED; LIH


HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

Medium match CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY


Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY Is also known as encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Medium match ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL


Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

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Other less relevant matches:

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1


MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

Medium match CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY


Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY Is also known as carbamoyl phosphate synthetase i deficiency|carbamoyl-phosphate synthetase deficiency|cps i deficiency|carbamoyl-phosphate synthetase i deficiency|cps1 deficiency|cps1d

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY

Medium match FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY


Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Medium match BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE


Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Medium match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Medium match HYDROXYKYNURENINURIA


Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

HYDROXYKYNURENINURIA Is also known as kynureninase deficiency, partial|kynureninase deficiency|xanthurenic aciduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HYDROXYKYNURENINURIA

Top 5 symptoms//phenotypes associated to Ataxia and Coma

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Encephalopathy 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 Coma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Confusion Vomiting Nystagmus Fever Tremor Spasticity Gait ataxia Headache Edema Respiratory insufficiency Acidosis Hearing impairment Cerebral edema Dysarthria Muscular hypotonia Hypertonia Drowsiness Irritability Vertigo

Rare Symptoms - Less than 30% cases


Generalized-onset seizure Hemiparesis Rigidity Acute encephalopathy Metabolic acidosis Stroke Paresthesia Abnormal cerebellum morphology Migraine Migraine with aura Hemiplegia Dysphasia Focal-onset seizure Abnormality of mitochondrial metabolism Transient unilateral blurring of vision Pain Hallucinations Failure to thrive Focal impaired awareness seizure Hyperammonemia Aminoaciduria Progressive encephalopathy Lethargy Intellectual disability, mild Episodic ataxia Lactic acidosis Strabismus Tetraparesis Dystonia Hyperreflexia Progressive neurologic deterioration Gait disturbance Intention tremor Cerebral atrophy Babinski sign Brain atrophy Loss of speech Developmental regression Respiratory failure Dysphagia Decreased adenosylcobalamin Abnormality of the nervous system Muscular hypotonia of the trunk Paralysis Abnormal pyramidal sign Renal tubular dysfunction Ophthalmoplegia Inability to walk Neurodegeneration Facial palsy Abnormality of the respiratory system Ptosis Abnormal posturing Gliosis Spastic tetraplegia Foot dorsiflexor weakness Encephalitis Severe vision loss Increased CSF protein Abducens palsy Acute necrotizing encephalopathy Nonprogressive encephalopathy Abnormal muscle tone Necrotizing encephalopathy Polyneuritis Breathing dysregulation Stomatitis Status epilepticus Mutism Paraparesis Pancytopenia Feeding difficulties in infancy Neutropenia Polyneuropathy Aciduria Dehydration Jaundice Decreased methylmalonyl-CoA mutase activity Respiratory distress Ketosis Ketonuria Methylmalonic aciduria Abnormality of the mitochondrion Homocystinuria Hyperglycinemia Methylmalonic acidemia Thrombocytopenia Dry skin Renal tubular acidosis Abnormality of the basal ganglia External ophthalmoplegia Bilateral ptosis Abnormality of the musculature Congenital sensorineural hearing impairment Atrophy/Degeneration affecting the brainstem Morphological abnormality of the pyramidal tract Stereotypy Hepatomegaly Cogwheel rigidity Craniofacial dystonia Hypotension Focal motor seizures Anemia Feeding difficulties Tachycardia Tetraplegia Visual hallucinations Cough Behavioral abnormality Skin erosion Infantile encephalopathy Encephalomalacia Cerebellar edema Delayed speech and language development Blindness Depressivity Myelopathy Photophobia Intellectual disability, moderate Autistic behavior Dysmetria Nausea Apraxia Vegetative state Increased CSF lactate Tinnitus Truncal ataxia Hypoglycemia Hyperinsulinemic hypoglycemia Hypoglycemic seizures Microcephaly Ventricular hypertrophy Left ventricular hypertrophy Dysphonia Leukoencephalopathy Global brain atrophy Progressive spasticity Mild microcephaly Loss of ability to walk Abnormality of the cerebral white matter Increased serum lactate Diplopia Loss of consciousness Pallor Respiratory alkalosis Generalized tonic-clonic seizures Hepatic steatosis Diabetes insipidus Alkalosis Microvesicular hepatic steatosis Decerebrate rigidity Hypoargininemia Muscle weakness Protein avoidance Episodic ammonia intoxication Low plasma citrulline Visual impairment Diarrhea Pneumonia Abdominal pain Psychotic episodes Aphasia Personality disorder Blurred vision Severe hearing impairment Restlessness Phonophobia Borderline personality disorder Migraine without aura Motor delay Dyscalculia Cerebellar atrophy Anxiety Retinal degeneration Psychosis Agitation Auditory hallucinations Abnormality of tryptophan metabolism



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