Tremor, and Acidosis

Diseases related with Tremor and Acidosis

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


Top matches:

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Low 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

Low match CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY


Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY Is also known as encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

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Low 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

Low 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

Low 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

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Low match LEBER OPTIC ATROPHY AND DYSTONIA


LEBER OPTIC ATROPHY AND DYSTONIA Is also known as leber hereditary optic neuropathy with dystonia|ldyt|dystonia, familial, with visual failure and striatal lucencies|marsden syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about LEBER OPTIC ATROPHY AND DYSTONIA

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77


Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Low match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Tremor and Acidosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperreflexia Strabismus Intellectual disability Ataxia Dysarthria Spasticity Lactic acidosis Increased CSF lactate Gait disturbance Nystagmus Intention tremor Muscular hypotonia of the trunk Coma Dysmetria Intellectual disability, mild Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Difficulty walking Poor head control Vomiting Scoliosis Intellectual disability, moderate Bradykinesia Aciduria Developmental regression Metabolic acidosis Lower limb spasticity Abnormality of the cerebral white matter Brain atrophy Gait ataxia Anemia Muscular hypotonia Encephalopathy Babinski sign Microcephaly Urinary incontinence Ketosis Dysphagia Optic atrophy Peripheral neuropathy Bruising susceptibility Short stature Decreased methylmalonyl-CoA mutase activity Decreased adenosylcobalamin Methylmalonic acidemia Hyperglycinemia Homocystinuria Methylmalonic aciduria Asthma Ketonuria Hyperammonemia Carcinoma Pancytopenia Heterotopia Dehydration Low-set ears Hepatocellular carcinoma Neutropenia Lethargy Feeding difficulties in infancy Thrombocytopenia Respiratory distress Hepatomegaly Feeding difficulties Failure to thrive Diarrhea Visual loss Paraplegia Generalized amyotrophy Spastic paraplegia Small for gestational age Apnea Talipes equinovarus Retrognathia Ptosis Leber optic atrophy Central scotoma Cerebral palsy Talipes cavus equinovarus Optic neuropathy Centrally nucleated skeletal muscle fibers Scotoma Abnormality of mitochondrial metabolism Agenesis of corpus callosum Athetosis Postural tremor Ragged-red muscle fibers Spastic gait Involuntary movements Vertebral fusion Progressive visual loss Abnormality of eye movement Behavioral abnormality Ophthalmoplegia Lower limb amyotrophy Hypertelorism Abnormality of metabolism/homeostasis Dementia Focal T2 hypointense basal ganglia lesion Cognitive impairment Epilepsia partialis continua Loss of speech Vegetative state Myelopathy Cerebral edema Progressive encephalopathy Leukoencephalopathy Progressive neurologic deterioration Tetraparesis Respiratory failure Cerebral atrophy Edema Respiratory insufficiency Loss of ability to walk Episodic ataxia Mild microcephaly Progressive spasticity Infantile encephalopathy Abnormality of the mitochondrion Growth delay Delayed speech and language development Visual impairment Intrauterine growth retardation Macrocytic anemia Difficulty running Headache Global brain atrophy Confusion Vertigo Ventricular hypertrophy Left ventricular hypertrophy Truncal ataxia Dysphonia Skin erosion Encephalomalacia Increased intramyocellular lipid droplets Cerebellar atrophy Generalized tonic seizures Central hypotonia Axonal degeneration Neurodevelopmental delay Brisk reflexes Exercise intolerance EMG abnormality Gynecomastia Progressive cerebellar ataxia Stroke Abnormal pyramidal sign Proximal muscle weakness Myoclonus Pes cavus Hearing impairment Cerebellar edema Diffuse cerebral atrophy Motor delay Hypoplasia of the corpus callosum Abnormality of extrapyramidal motor function Leukodystrophy CNS hypomyelination Poor eye contact Developmental stagnation Absent smooth pursuit Pseudobulbar paralysis Lower limb hypertonia Cerebral hypomyelination Hyperintensity of cerebral white matter on MRI Infantile axial hypotonia Progressive extrapyramidal movement disorder Poor coordination



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