Disease Information for Hereditary mitochondrial disorder

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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
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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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