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Disease Comparison Results (show differences mode) for MELAS Encephalopathy and Spinopontine Atrophy /MJD disease

Clinical
Demographics
Lab
Diagnostic
Diseases
Classification
Synonyms
Treatment
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Found: 34 | Differences: 23

Found: 145 | Differences: 134

MELAS Encephalopathy and Spinopontine Atrophy /MJD disease sharing 11 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms: Ataxia; Ataxia, Cerebellar type; Ataxia/Motor tremor type; Movement or gait disorder/signs; Neurologic manifestations/signs; Staggering Gait; Unable to tandem walk/straight line

Laboratory Tests
Abnormal Lab Findings (Non Measured): DNATest specific/genetics laboratory/abnormality (Lab)

Diagnostic Test Results
CT Scan: CT Scan/Head pontine lesion

Associated Diseases & Rule outs
Associated Disease & Complications: Myelopathy manifestations/involvement; Spinopontine atrophy/MJD disease; Ataxia Disorder

Disease Mechanism & Classification
Class: CLASS/Neurologic (category)
Pathophysiology: Pathophysiology/Hereditary disease/Adult manifestations; Pathophysiology/Neurologic degenerative disorder (ex)
Process: PROCESS/Atrophic disorders (ex); PROCESS/Movement disorder (ex); PROCESS/Developmental degenerative neurological disorder (ex); PROCESS/Hereditary SCA (spinocerebellar ataxias)

Synonyms
Synonym: Synonym/Machado-Joseph disease; Synonym/MJD/Machado-Joseph disease

Clinical Manifestations
Signs & Symptoms: Hyperextensable Joints Infant; Myopathic facies/snarling smile; Anorexia in Children; Episodic vomiting; Nausea; Vomiting; Vomiting in Children; Vomiting in infancy; Vomiting recurrent; Weight loss in Children; Tongue Protrudes Infant; Central hypotonia, infants; Delay Sitting Unsupported Infant; Mouth Hangs Open Infant; Muscle weakness; Muscles Soft/Doughy Infant; Rolling Over Delay Infant; Abnormal movements/involuntary; Altered mental status Mental status change; Alternating hemiplegia/signs; Central Facial Paralysis; Cognitive defect; Delayed speech/language development; Delayed walking milestone/child; Development Motor Skills (Milestones) Delayed; Developmental milestones delayed; Drowsiness/somnolence; Head Neck Floppy Infant Hypotonia Sign; Hemianopsia/homonymous/sign; Hemiplegic Gait; Infant Head Support Delay; Infant Seizures; Irritability/short tempered; Mental Deficiency Child; Mental/motor retardation in children/signs; Moro Reflex unilateral Abnormal; Regressing neuromotor/skills child/signs; Seizures; Seizures/Children/recurrent; Slow Motor Development; Stroke Syndrome Child; Stroke Syndrome/Hereditary Disease; Stroke syndrome/signs; Stupor/poor reponse to stimulus; Sudden unconsciousness; Shallow Breathing Infant; Psychomotor retardation; Delayed speech development/impediment; Episodic symptoms/events; Growth/development delay; Hypersomnia/Increased need for sleep; Infant peevish/irritable/fretful; Short stature; Weight Loss; Ptosis (blepharoptosis)
Typical Clinical Presentation: Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations: Presentation/Non diabetic Ketoacidosis Kids infants; Presentation/Kids Strokes Lactic acidosis; Presentation/Progressive dementia Child Infant
Disease Progression: Course/Lethal; Course/Progressive; Course/Relentless; Onset/Childhood

Demographics & Risk Factors
Family History: Family history/Childhood CNS degenerating disease/death
Sex & Age Groups: Population/Preschool child

Laboratory Tests
Abnormal Lab Findings - Decreased: Lactic acid/Lactate (Lab); pH, arterial blood (Lab)
Abnormal Lab Findings - Increased: Anion gap (Lab); Lactic acid/Lactate (Lab)

Diagnostic Test Results
Other Tests & Procedures: Lumbar puncture/Increased CSF pressure/LP test
Pathology: BX/Muscle Biopsy Abnormal; BX/Muscle Biopsy/Mitochondia striated muscle/Abnormal; BX/Muscle red ragged fibers; BX/Brain biopsy/Abnormal; PATH/Brain cortical microcystic lesions/not vascular; PATH/Brain focal encephalopathy

Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs: Encephalitis; Encephalitis, viral; Multiple sclerosis; Myotonia atrophica
Associated Disease & Complications - Causes: Acidosis; Acidosis, metabolic; Blindness; Blindness in Children; CNS disease/involvement; Coma in Children; Coma/Unconscious; Convulsions (grand mal); Cortical blindness; Cytochrome C Oxidase Deficiency/Mitochondrial; Deafness; Deafness, sensorineural; Death/Unanticipated; Dementia; Developmental neurologic degeneration/child; Encephalopathy/CNS effect; Epilepsy; Epilepsy partialis continua; Focal motor seizure; Hemiparesis; Hemiplegia; Lactic acidosis; MELAS/Encephalopathy; Mental retardation; Metabolic Myopathy; Mitochondrial myopathy; Myopathy; Myopathy/secondary/nonspecific; Neonatal Hypotonia/Floppy Baby Syndrome; Neurodevelopmental disorders; Seizure disorder (epilepsy); Stroke/Child; Vomiting Excess/Chronic; Deafness Acquired

Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex); CLASS/Primary organ/system disorder (ex)
Drugs: Pathophysiology/Inherited ONLY from the mother
Pathophysiology: Pathophysiology/Maternal inheritance; Pathophysiology/Mitochondrial oxidative respiratory chain defect; Pathophysiology/Mitochondrial/ova cyoplasm heredity; Pathophysiology/Non-mendelian maternal heredity; Pathophysiology/CSF Pressure Increased
Process: PROCESS/Hereditary mitochondrial disorder (ex); PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Metabolic/storage disorder (category); PROCESS/Organic acidemia metabolic disorder (ex); PROCESS/Mitochondrial disorders (ex)

Synonyms
Synonym: Synonym/Mitochondrial encephalopathy; Synonym/Mitochondrial Encephalopathy Lactic Acidosis Syn

Treatment
Other Treatments: TX/Supportive/Symptomatic treatment

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