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.
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.
TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1
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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
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SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about OXOGLUTARIC ACIDURIAHYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy
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SOURCES: ORPHANET OMIM MENDELIAN
More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROMEClassic 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
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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
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SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about DILATED CARDIOMYOPATHY WITH ATAXIAFatal 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
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SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIAMitochondrial 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
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SOURCES: ORPHANET OMIM MENDELIAN
More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCYMitochondrial 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
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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).
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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 |
Patients with Ataxia and Hypoglycemia. may also develop some of the following symptoms:
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