Ataxia, and Hypoglycemia

Diseases related with Ataxia and Hypoglycemia

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


Top matches:

Low match TREMOR, HEREDITARY ESSENTIAL, 1; ETM1


Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Low match OXOGLUTARIC ACIDURIA


Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency|alpha-kgd deficiency|oxoglutaric aciduria|alpha-ketoglutarate dehydrogenase deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OXOGLUTARIC ACIDURIA

Low 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

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Other less relevant matches:

Low match POLYENDOCRINE-POLYNEUROPATHY SYNDROME


Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Low match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Low match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Low match FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA


Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Low match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Top 5 symptoms//phenotypes associated to Ataxia and Hypoglycemia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Generalized hypotonia Hearing impairment Lactic acidosis Acidosis Spasticity Failure to thrive Feeding difficulties Encephalopathy Cardiomyopathy Metabolic acidosis Muscular hypotonia Optic atrophy Increased serum lactate Muscular hypotonia of the trunk Dysarthria Motor delay Tremor Skeletal muscle atrophy Abnormality of movement Short stature Cerebral atrophy

Rare Symptoms - Less than 30% cases


Severe lactic acidosis Intrauterine growth retardation Aciduria Hyperreflexia Congestive heart failure Unsteady gait Postnatal growth retardation Leukoencephalopathy Ventriculomegaly Arrhythmia Respiratory failure Gait disturbance Rigidity Cognitive impairment Hypertonia Mental deterioration Diffuse cerebral atrophy Bradycardia Infantile muscular hypotonia Pleural effusion Epileptic spasms Aspiration pneumonia Generalized amyotrophy Limb hypertonia Ascites Ketonuria Wolff-Parkinson-White syndrome Brisk reflexes Sinus bradycardia Hyperalaninemia Cardiomegaly Thrombocytopenia Tachycardia Necrotizing encephalopathy Abnormality of the skin Progressive neurologic deterioration Shock Hypophosphatemia Muscle fibrillation Multifocal seizures Methylmalonic aciduria Poor motor coordination Low-set ears Episodic metabolic acidosis Renal aminoaciduria Intermittent hyperpnea at rest Hepatomegaly Hypertrophic cardiomyopathy Small for gestational age Poor speech Decreased activity of mitochondrial respiratory chain Peripheral neuropathy Absent speech Slender build Malnutrition Celiac disease Mitochondrial myopathy Dysmetria Neurological speech impairment Progressive external ophthalmoplegia Hypomagnesemia Gastrointestinal dysmotility Tetraplegia Sensory ataxic neuropathy Nystagmus Aggressive behavior Delayed speech and language development Rod-cone dystrophy Visual impairment Cerebellar atrophy Bilateral talipes equinovarus Cachexia Talipes equinovarus Exotropia Athetosis Myopathy Constipation Abdominal pain Abnormality of the cerebral white matter Ophthalmoplegia Malabsorption Abdominal distention Delayed myelination Amblyopia Generalized muscle weakness Hepatic fibrosis Decreased liver function External ophthalmoplegia Spastic tetraplegia Ragged-red muscle fibers Hypokalemia Prolonged QT interval Severe global developmental delay Pes cavus Irritability Vertigo Coma Drowsiness Hyperinsulinemic hypoglycemia Hypoglycemic seizures Cerebellar hypoplasia Hypogonadism Abnormality of Krebs cycle metabolism Diabetes mellitus Hypothyroidism Intellectual disability, moderate Abnormal pyramidal sign Polyneuropathy Type I diabetes mellitus Progressive hearing impairment Strabismus Abnormal urine alpha-ketoglutarate concentration Central hypothyroidism Memory impairment Fever Fatigue Depressivity Dementia Anxiety Parkinsonism Migraine Abnormality of extrapyramidal motor function Congenital lactic acidosis Postural tremor Personality changes Resting tremor Hand tremor Head tremor Kinetic tremor Hydrocephalus Abnormal salivary gland morphology Glucose intolerance Cataract Abnormality of the nervous system Testicular dysgenesis Hypokinesia Microcytic anemia Perineal hypospadias 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Glutaric aciduria Noncompaction cardiomyopathy Mitral regurgitation 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Respiratory insufficiency Intellectual disability, severe Obesity Hyperhidrosis Abnormality of the genital system Decreased testicular size Osteoporosis Speech apraxia Weight loss Jaundice Lethargy Nausea and vomiting Hepatic failure Abnormal bleeding Sepsis Abnormality of the ovary Sudden cardiac death Decreased fertility in females Speech articulation difficulties Impairment of galactose metabolism Cryptorchidism Anemia Hypospadias Dilated cardiomyopathy Hepatic steatosis Mitochondrial encephalopathy



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