Hyperreflexia, and Acidosis

Diseases related with Hyperreflexia and Acidosis

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

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

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.

MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as maternally-inherited cpeo|mtdna-related progressive external ophthalmoplegia|maternally-inherited chronic progressive external ophthalmoplegia

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Other less relevant matches:

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

MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

Related symptoms:

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


SOURCES: ORPHANET MENDELIAN

More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 9 Is also known as 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|mga9

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 9

Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

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

Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 Is also known as progressive external ophthalmoplegia, autosomal recessive 2

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Pain
  • Ptosis
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Acidosis

Symptoms // Phenotype % cases
Increased serum lactate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Spasticity Lactic acidosis Abnormal pyramidal sign Dysarthria Nystagmus Developmental regression Muscle weakness Seizures Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases

Babinski sign Exercise intolerance Absent speech External ophthalmoplegia Brisk reflexes Ophthalmoplegia Optic atrophy Difficulty walking Hypoplasia of the corpus callosum Intellectual disability, severe Gait disturbance Abnormal cerebellum morphology Lower limb spasticity Encephalopathy Cerebral atrophy Hypertonia Tremor Microcephaly Cerebellar atrophy Motor delay Ptosis Failure to thrive Cognitive impairment Leukodystrophy Elevated serum creatine phosphokinase Progressive neurologic deterioration Intellectual disability, mild Abnormality of extrapyramidal motor function EMG abnormality Gait ataxia Proximal muscle weakness Increased intramyocellular lipid droplets Pes cavus Intellectual disability, moderate Increased CSF lactate Stroke Generalized tonic seizures Progressive cerebellar ataxia Central hypotonia Gynecomastia Axonal degeneration Neurodevelopmental delay Myoclonus Strabismus Myalgia Epilepsia partialis continua Anemia Stridor Failure to thrive in infancy Leukoencephalopathy Spastic tetraparesis Exotropia Tetraparesis Optic disc pallor Neurodegeneration Lethargy Irritability Dyspnea Respiratory failure Progressive ophthalmoplegia Talipes cavus equinovarus Progressive external ophthalmoplegia Bundle branch block Right bundle branch block Progressive muscle weakness Postural instability Unsteady gait Absent smooth pursuit Respiratory insufficiency Dysphagia Skeletal muscle atrophy Peripheral neuropathy Pain Focal T2 hypointense basal ganglia lesion Hearing impairment Delayed ability to walk Progressive extrapyramidal movement disorder Poor speech Cardiomyopathy Jerky head movements Paroxysmal dystonia Decreased activity of the pyruvate dehydrogenase complex Generalized dystonia Delayed gross motor development Hyperammonemia Drooling Oculomotor apraxia Choreoathetosis Apraxia Neonatal hypotonia Peripheral axonal neuropathy Pachygyria Pigmentary retinopathy Delayed myelination Retinopathy Ventriculomegaly Feeding difficulties Restlessness Athetosis Inability to walk Severe global developmental delay Dementia Diabetes mellitus Progressive spastic paraplegia Infantile axial hypotonia Vomiting Hyperintensity of cerebral white matter on MRI Cerebral hypomyelination Lower limb hypertonia Pseudobulbar paralysis Developmental stagnation Diffuse cerebral atrophy Poor eye contact CNS hypomyelination Poor head control Intention tremor Dysmetria 3-Methylglutaconic aciduria Impaired vibration sensation in the lower limbs Abnormality of mitochondrial metabolism Clonus Hypsarrhythmia Epileptic encephalopathy Aciduria Brain atrophy Abnormality of the cerebral white matter Leg muscle stiffness Lower limb pain Supraventricular arrhythmia Distal lower limb muscle weakness Abnormality of the periventricular white matter


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