Ataxia, and Increased serum lactate

Diseases related with Ataxia and Increased serum lactate

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


Top matches:

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4


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

Medium match GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME


Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Growth delay
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME

Medium 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

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Other less relevant matches:

Medium match SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4


SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

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

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6


Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Medium match RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


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

Medium match AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE 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

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2


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

Medium match MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME


Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME Is also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Increased serum lactate

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Lactic acidosis Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Increased serum lactate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Acidosis Seizures Dysmetria Muscular hypotonia of the trunk Spasticity Hyperreflexia Tremor Cerebellar atrophy Nystagmus Muscle weakness Dysarthria Developmental regression

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Absent speech Sensorineural hearing impairment Respiratory insufficiency Hearing impairment Abnormal pyramidal sign Difficulty walking Proximal muscle weakness Metabolic acidosis Increased CSF lactate Microcephaly EMG abnormality Strabismus Encephalopathy Cognitive impairment Leukoencephalopathy Exercise intolerance Inability to walk Abnormality of extrapyramidal motor function Peripheral neuropathy Poor head control Neurodevelopmental delay Gynecomastia Central hypotonia Brisk reflexes Axonal degeneration Pes cavus Progressive cerebellar ataxia Stroke Intellectual disability, moderate Gait ataxia Myoclonus Absent smooth pursuit Progressive extrapyramidal movement disorder Infantile axial hypotonia Hyperintensity of cerebral white matter on MRI Cerebral hypomyelination Lower limb hypertonia Pseudobulbar paralysis Developmental stagnation Diffuse cerebral atrophy Poor eye contact Generalized tonic seizures Myalgia Increased intramyocellular lipid droplets Focal impaired awareness seizure Fatigue Myopathy Postnatal growth retardation Focal-onset seizure Hemiparesis Ragged-red muscle fibers Gowers sign Progressive external ophthalmoplegia Toe walking Mitochondrial myopathy Progressive proximal muscle weakness Episodic vomiting Hyperalaninemia Increased serum pyruvate Vaginal fistula Progressive ophthalmoplegia Bundle branch block Epilepsia partialis continua Elevated serum creatine phosphokinase Talipes cavus equinovarus Focal T2 hypointense basal ganglia lesion Pain Ptosis Gait disturbance Dysphagia Babinski sign Right bundle branch block Leukodystrophy Ophthalmoplegia Unsteady gait Postural instability Abnormal cerebellum morphology Progressive muscle weakness External ophthalmoplegia CNS hypomyelination Feeding difficulties Lower limb spasticity Hydrocephalus Peripheral demyelination Sensory impairment Distal sensory impairment Distal muscle weakness Kyphoscoliosis Areflexia Abnormality of Krebs cycle metabolism Abnormal urine alpha-ketoglutarate concentration Congenital lactic acidosis Abnormal salivary gland morphology Abnormality of movement Hypoglycemia Hypertonia Muscular hypotonia Easy fatigability Short stature Abnormality of the mitochondrion Difficulty running Macrocytic anemia Intrauterine growth retardation Visual impairment Delayed speech and language development Anemia Growth delay Restlessness Athetosis Severe global developmental delay Dementia Intellectual disability, severe Horizontal nystagmus Decreased nerve conduction velocity Intention tremor Encephalomalacia Vomiting Hypoplasia of the corpus callosum Motor delay Abnormality of mitochondrial metabolism Postnatal microcephaly Spastic tetraplegia Optic disc pallor Epileptic encephalopathy Tetraplegia Poor speech Visual loss Optic atrophy Failure to thrive Cerebellar edema Infantile encephalopathy Axonal loss Skin erosion Vegetative state Myelopathy Cerebral edema Progressive encephalopathy Progressive neurologic deterioration Tetraparesis Brain atrophy Coma Abnormality of the cerebral white matter Respiratory failure Cerebral atrophy Edema Demyelinating peripheral neuropathy Moderate sensorineural hearing impairment



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