Hyperreflexia, and Lactic acidosis

Diseases related with Hyperreflexia and Lactic acidosis

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

Top matches:

MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.

PYRUVATE DEHYDROGENASE E2 DEFICIENCY Is also known as dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex|pyruvate dehydrogenase complex component e2 deficiency|dihydrolipoyll

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E2 DEFICIENCY

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Other less relevant matches:

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

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

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

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

Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Top 5 symptoms//phenotypes associated to Hyperreflexia and Lactic acidosis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Increased serum lactate Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Lactic acidosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Dystonia Cerebral atrophy Developmental regression Failure to thrive Cerebellar atrophy Spasticity Muscle weakness Hypertonia Muscular hypotonia Babinski sign Hypoplasia of the corpus callosum Brisk reflexes Microcephaly Growth delay Ventriculomegaly Nystagmus Delayed myelination

Rare Symptoms - Less than 30% cases

Exercise intolerance Anemia Neurodevelopmental delay Thrombocytopenia Epilepsia partialis continua Delayed speech and language development Hypoglycemia Athetosis Ragged-red muscle fibers Dysarthria Hyperalaninemia Cardiomyopathy Dyspnea Exotropia Leukoencephalopathy Aminoaciduria Clonus Intrauterine growth retardation Visual impairment Muscular hypotonia of the trunk Tremor Motor delay Hyperammonemia Leukodystrophy Poor speech Hearing impairment Diffuse cerebral atrophy Progressive neurologic deterioration Mitochondrial encephalopathy Myoclonus Atrophy/Degeneration affecting the brainstem Necrotizing encephalopathy Ventricular hypertrophy Decreased fetal movement Small for gestational age Neuronal loss in central nervous system Apnea Hypertrophic cardiomyopathy Respiratory insufficiency Renal insufficiency Neuronal loss in the cerebral cortex Congenital lactic acidosis Chronic metabolic acidosis Hypsarrhythmia Periventricular cysts Pneumonia Renal tubular acidosis Generalized aminoaciduria Status epilepticus Increased head circumference Proximal renal tubular acidosis Metabolic acidosis Cystinuria Tachypnea CNS hypomyelination Increased serum pyruvate Abnormality of the mitochondrion Dysgraphia Periventricular leukomalacia Ketoacidosis Epileptic encephalopathy Gliosis Left ventricular hypertrophy Rod-cone dystrophy Epileptic spasms Vomiting Skeletal muscle atrophy Optic atrophy Absent speech Limb hypertonia Generalized amyotrophy Decreased activity of mitochondrial complex III Amblyopia Rigidity Aggressive behavior Neurological speech impairment Dysmetria Tetraplegia Multifocal seizures Wide nasal bridge Postnatal microcephaly Weak cry Bradycardia Spastic tetraplegia Generalized myoclonic seizures Opisthotonus Hypokinesia Paraplegia Hypothermia Cerebral cortical atrophy Severe lactic acidosis Abnormal renal physiology Abnormality of the renal tubule Abnormal enzyme/coenzyme activity Spastic paraplegia Decreased activity of mitochondrial complex II EEG abnormality Congestive heart failure Cytochrome C oxidase-negative muscle fibers Intellectual disability, severe Axonal degeneration Proximal muscle weakness Intellectual disability, moderate Abnormal pyramidal sign Stroke Progressive cerebellar ataxia Gynecomastia EMG abnormality Central hypotonia Pes cavus Increased CSF lactate Generalized tonic seizures Increased intramyocellular lipid droplets Talipes cavus equinovarus Focal T2 hypointense basal ganglia lesion Gait disturbance Respiratory failure Gait ataxia Cognitive impairment Lethargy Apraxia Elevated serum creatine phosphokinase Retinopathy Pigmentary retinopathy Pachygyria Ptosis Intellectual disability, mild Neonatal hypotonia Choreoathetosis Strabismus Oculomotor apraxia Drooling Delayed gross motor development Generalized dystonia Decreased activity of the pyruvate dehydrogenase complex Paroxysmal dystonia Jerky head movements Irritability Ophthalmoplegia Respiratory distress Brain atrophy Myopathy Hyporeflexia Narrow mouth Malabsorption Paresthesia Cirrhosis Triangular face Blue sclerae Focal T2 hyperintense basal ganglia lesion Glucose intolerance Exertional dyspnea Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Hepatomegaly Macrocephaly Ethylmalonic aciduria Tethered cord Neurodegeneration Diarrhea Optic disc pallor Tetraparesis Spastic tetraparesis External ophthalmoplegia Failure to thrive in infancy Stridor Abnormality of the periventricular white matter Aciduria Ecchymosis Abnormality of extrapyramidal motor function Chronic diarrhea Petechiae Arnold-Chiari type I malformation Acrocyanosis Abnormality of the retinal vasculature Episodic ataxia Type 2 muscle fiber atrophy


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