Cognitive impairment, and Abnormality of mitochondrial metabolism

Diseases related with Cognitive impairment and Abnormality of mitochondrial metabolism

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Abnormality of mitochondrial metabolism that can help you solving undiagnosed cases.


Top matches:

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6


Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Encephalopathy
  • Acidosis
  • Elevated hepatic transaminase
  • Lactic acidosis
  • Hepatic failure


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5


Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Low match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

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Other less relevant matches:

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Low match BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE


Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Low match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Low match EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME


Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.

EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME Is also known as autosomal recessive spastic ataxia type 5|afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spax5

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2


Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2

Low match CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA


Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.

CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA Is also known as childhood-onset spasticity with variant non-ketotic hyperglycinemia|spasticity-ataxia-gait anomalies syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET SPASTICITY WITH HYPERGLYCINEMIA

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27 Is also known as coxpd27

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27

Top 5 symptoms//phenotypes associated to Cognitive impairment and Abnormality of mitochondrial metabolism

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Dysphagia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Abnormality of mitochondrial metabolism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Increased serum lactate Encephalopathy Hyperreflexia Dystonia Generalized hypotonia Cerebellar atrophy Feeding difficulties Nystagmus Myoclonus Mental deterioration Cerebellar hypoplasia Cerebral cortical atrophy Intellectual disability Spasticity Acidosis Visual impairment Gait ataxia Abnormal pyramidal sign Spastic paraparesis Ptosis Global developmental delay Intellectual disability, mild Cerebral atrophy Paraparesis Neurodegeneration Muscle weakness Lactic acidosis Hearing impairment

Rare Symptoms - Less than 30% cases


Progressive neurologic deterioration Abnormality of extrapyramidal motor function Horizontal nystagmus Epileptic encephalopathy Respiratory insufficiency Hypertonia Spastic ataxia Spastic dysarthria Irritability Hyperammonemia Dysdiadochokinesis Generalized-onset seizure Abnormality of movement Status epilepticus Tetraparesis Apraxia Peripheral axonal neuropathy Dysmetria Elevated hepatic transaminase Skeletal muscle atrophy Peripheral neuropathy Decreased activity of mitochondrial respiratory chain Coma EEG abnormality Chorea Brain atrophy Cardiomyopathy Optic atrophy Ragged-red muscle fibers Rigidity Areflexia Hypoplasia of the corpus callosum Gait disturbance Neonatal respiratory distress Lower limb muscle weakness Hyperglycinemia Spastic gait Decreased activity of the pyruvate dehydrogenase complex Neuronal loss in central nervous system Nonketotic hyperglycinemia Spinal cord lesion Generalized myoclonic seizures Distal amyotrophy Bradycardia Loss of ability to walk in early childhood Generalized tonic-clonic seizures Opisthotonus Distal muscle weakness Failure to thrive Oculomotor apraxia Pneumonia Hepatic steatosis Postnatal microcephaly Astrocytosis Motor deterioration Severe muscular hypotonia Hypoplastic left heart Sensorimotor neuropathy Progressive spasticity Short attention span Microvesicular hepatic steatosis Axonal degeneration Obsessive-compulsive behavior Dysphonia Incoordination Truncal ataxia Impaired social interactions Fasciculations Strabismus Diplopia Hallucinations Psychosis Bradykinesia Anxiety Olivopontocerebellar atrophy Pes cavus Developmental regression Unsteady gait Depressivity Behavioral abnormality Tremor Abnormal mitochondria in muscle tissue Increased intramyocellular lipid droplets Left ventricular hypertrophy Leukodystrophy Spastic diplegia Demyelinating peripheral neuropathy Aggressive behavior Focal motor seizures Polyneuropathy Short stature Restlessness Epicanthus Vomiting Choreoathetosis Aciduria Neutropenia Paraplegia Spastic paraplegia Reduced visual acuity Hypoglycemia Abnormality of the liver Metabolic acidosis Decreased liver function Tachypnea Poor suck Abnormal facial shape Abnormality of coagulation Fatigue Increased serum pyruvate Myopathy Hyporeflexia Ketosis Dementia Proximal muscle weakness Frontal lobe dementia Parkinsonism Akinesia Amyotrophic lateral sclerosis Bulbar palsy Frontotemporal dementia Pseudobulbar signs 3-Methylglutaconic aciduria Metabolic ketoacidosis Hypertrophic cardiomyopathy Focal impaired awareness seizure Neonatal hypotonia Hepatic failure Patent ductus arteriosus Respiratory distress Intrauterine growth retardation Scoliosis Sensorineural hearing impairment Craniofacial dystonia Acute encephalopathy Cogwheel rigidity Abnormality of the basal ganglia Morphological abnormality of the pyramidal tract Loss of speech Atrophy/Degeneration affecting the brainstem Bilateral ptosis Episodic ketoacidosis Muscular hypotonia of the trunk Fever Acute hepatic failure Ketoacidosis Hyperglycemia Respiratory failure Abnormality of the nervous system Facial palsy Mutism Paralysis Ophthalmoplegia Confusion Inability to walk Focal-onset seizure External ophthalmoplegia Multifocal epileptiform discharges



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