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Disease Information for Hereditary mitochondrial disorder

Clinical Manifestations
Signs & Symptoms: Nausea; Vomiting; Vomiting recurrent
: Episodic muscle weakness; Muscle spasticity; Proximal muscle weakness
: Ataxia; Awkward Uncoordinated Child; Delayed speech/language development; Development Motor Skills (Milestones) Delayed; Developmental milestones delayed; Dystonia; Headache; Headache in children; Hyperreflexia/DTRs increased; Infant Seizures; Limb Ataxia; Limb ataxia/clumsiness child; Mental Slowing Deteriation; Motor slowing; Neurologic manifestations/signs; Psychomotor regression/infant/child; Regressing neuromotor/skills child/signs; Seizures; Seizures Newborn; Seizures/Children/recurrent; Slow Motor Development; Staggering Gait
: Cyanosis Child
: Child Terrors/Crying Uncontrollably; Psychomotor retardation
: Episodic symptoms/events
Clinical Presentation & Variations: Presentation/Progressive CNS degeneration Acidosis Myopathy Liver Child; Presentation/Progressive dementia Child Infant
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Population Group: Child; Infant; Population/Pediatrics population
Family History: Family history/Childhood CNS degenerating disease/death
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all; Population/Infant
Laboratory Tests
Abnormal Lab Findings - Decreased: pH, arterial blood (Lab)
Abnormal Lab Findings - Increased: Anion gap (Lab); Lactic acid/Lactate (Lab)
Diagnostic Test Results
CT Scan: MRI/Head Brain Abnormal; MRI/Head Grey matter degeneration
Associated Diseases & Rule outs
Rule Outs: Ataxia-telangiectasia; Sudden Infant death syndrome/SIDS
Associated Disease & Complications: Acidosis; Acidosis, metabolic; Coma in Children; Coma/Unconscious; Convulsions (grand mal); Developmental neurologic degeneration/child; Hepatic failure; Hepatitis, secondary; Hypoglycemia; Hypoglycemia, infantile; Lactic acidosis; Myopathy/secondary/nonspecific; Neurodevelopmental disorders; Primary lactic acidemias; Sideroblastic Anemia Sideroachrestic; Stroke/Child; Vomiting Excess/Chronic
: Secondary Dystonia
: Lactic acidosis kids/primary
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
: CLASS/Muscle disorder (ex)
: CLASS/Tissue/cells/organelles/collagen (category)
: CLASS/Multisystem/organ involvement/pathology (ex)
Pathophysiology: Pathophysiology/Carbohydrate metabolic disorder; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Maternal inheritance; Pathophysiology/Multisystem disease
: Pathophysiology/Neurologic degenerative disorder (ex)
Process: PROCESS/Hereditary mitochondrial disorder (ex); PROCESS/Hereditofamilial (category); PROCESS/Hierarchic item/group of diseases (category); PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Metabolic/storage disorder (category); PROCESS/Organic acidemia metabolic disorder (ex); PROCESS/Variant expressions/Subsets (ex)
: PROCESS/Mitochondrial disorders (ex)
Synonyms
Synonym: Disease Mitochondrial, Disorder Mitochondrial, Disorders Mitochondrial, hereditary, MITOCHONDRIAL DIS, mitochondrial disease, mitochondrial disease disorder, Mitochondrial Diseases, mitochondrial disorder, Mitochondrial Disorders, Early Onset Ataxia/Children, Synonym/Alpers disease variant, Synonym/Complex I NADH deficiency variant, Synonym/Cytochrome C oxidase deficiency (COX) variant, Synonym/Mitochondrial cytopathy, Synonym/Pearson syndrome variant, Synonym/Pyruvate dehydrogenase deficiency (PDH) variant, Synonym/Respiratory chain disorders (Complex I,II,II,IV,V)
Treatment
Drug Therapy - Indication: RX/Biotin; RX/Carnitine (Carnitor L-Carnitine); RX/Coenzyme Q; RX/Diechloracetate (?); RX/Niacin/Nicotinic acid; RX/Riboflavin/Vitamin B2 (generic); RX/Thiamine
Other Treatments: TX/Specialty care; TX/Specific diet/avoidance
Definition: Be the first to add a definition for Hereditary mitochondrial disorder
External Links Related to Hereditary mitochondrial disorder: Google; Wikipedia; Merck; Images; PubMed (National Library of Medicine); NGC (National Guideline Clearinghouse); Medscape (eMedicine); Harrison's Online (accessmedicine); NEJM (The New England Journal of Medicine)

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