Disease Comparison Results (show all mode) for Erb's Muscular Dystrophy/Limb Girdle MD and Kearns-Sayre Ophthalmoplegic Syndrome

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Kearns-Sayre Ophthalmoplegic Syndrome

Found: 141 | Differences: 117

Erb's Muscular Dystrophy/Limb Girdle MD

Found: 83 | Differences: 59

Erb's Muscular Dystrophy/Limb Girdle MD and Kearns-Sayre Ophthalmoplegic Syndrome sharing 24 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms
Myopathic facies/snarling smile
Delayed adolescence/secondary sex changes
Muscle weakness
Ataxia
Babinski's upgoing toes/bilateral
Cerebellar signs
Chronic progressive ophthalmoplegia/Bilateral/CPEO
Dysdiadochokinesia/Alternating failure
Facial muscle weakness/myopathy
Mental Deficiency Child
Mental Slowing Deteriation
Motor slowing
Nystagmus, pendular
Progressive neurological disorder/signs
Seizures
Staggering Gait
Head tilted back/posture sign
Short stature
Weakness
Difficulty Focusing Eyes
Diplopia Double vision
Double Image Vision Confirmed
Eye symptoms/signs
Ptosis (blepharoptosis)
Retinal pigmentation
Clinical Presentation & Variations
Presentation/Progressive Ophthalmoplegia
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive/slowly chronic illness
Onset/Adolescence/puberty
Onset/Second decade
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Young Adult
Sex & Age Groups
Population/Adult ('twenties')
Population/Adult/all
Population/Child
Population/Children/all
Population/Young adult
Laboratory Tests
Abnormal Lab Findings (Non Measured)
CSF abnormal
CSF Protein increased/cells absent
Abnormal Lab Findings - Decreased
Magnesium (Lab)
Parathyroid hormone PTH (Lab)
Abnormal Lab Findings - Increased
Aldolase, serum (Lab)
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
Lactic acid/Lactate (Lab)
Pyruvate, plasma (Lab)
CSF IGA
CSF IGG
CSF IGM
Diagnostic Test Results
Pathology
BX/Muscle biopsy/Lipid droplets
BX/Muscle Biopsy/Mitochondia striated muscle/Abnormal
BX/Muscle red ragged fibers
BX/Muscle/Cytochrome oxidase negative fibers
Electrodiagnosis
EMG/Abnormal findings
EEG/Evoked Potential Responses Abnormal
EEG/Visual evoked response/abnormality
EKG (ECG)
EKG/AV Nodal Block/Complete
EKG/Conduction defect findings (ECG)
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Myasthenia gravis
Oculopharyngeal muscular dystrophy
Associated Disease & Complications - Causes
AV node lesion/infiltrate
Bradyarrhythmias
Cardiac arrhythmias
Cardiomyopathy
Cerebellar ataxia
Convulsions (grand mal)
Cytochrome C Oxidase Deficiency/Mitochondrial
Deafness
Death/Unanticipated
Dementia
Diabetes mellitus
Heart block, complete
Hereditary Blindness
Hypoparathyroidism, primary
Kearns-Sayre syndrome
Mental retardation
Mitochondrial myopathy
Neurodevelopmental disorders
Ophthalmoplegia
Ophthalmoplegia/progressive/ext/chronic
Retinitis pigmentosa
Retinopathy
Stokes-Adams attacks
Ataxia Disorder
Diabetes mellitus/non-insulin dep/type II
Disease Mechanism & Classification
Class
CLASS/Ophthalmology Specialty Population
CLASS/Pediatric disorders (ex)
CLASS/Cardiovascular (category)
CLASS/Heart disorder (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
CLASS/Tissue/cells/organelles/collagen (category)
CLASS/Ophthalmology disorders
CLASS/Systemic/no comment (category)
CLASS/Eye involvement/disorder (ex)
Drugs
Pathophysiology/Inherited ONLY from the mother
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal inheritance
Pathophysiology/Mitochondrial oxidative respiratory chain defect
Pathophysiology/Mitochondrial/ova cyoplasm heredity
Pathophysiology/Non-mendelian maternal heredity
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Mitochondrial encephalomyopathy
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Developmental/delayed expression disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary mitochondrial disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Mitochondrial disorders (ex)
Synonyms
Synonym
Synonym/Chronic prog. external ophthalmoplegia/Ragged-red fibers
Synonym/Chronic progressive ophthalmoplegia/myopathy
Synonym/CPEO with myopathy
Synonym/CPEO with ragged-red fibers
Synonym/Hereditary external ophthalmoplegia
Synonym/Kearns-Sayre Mitochondrial Myopathy
Synonym/Kearns-Sayre Ophthalmoplegia
Synonym/KSS (Kearns-Sayre)
Synonym/Mitochondrial cytopathy, Kearns-Sayre type
Synonym/Oculocraniosomatic neuromuscular disease
Synonym/Oculocraniosomatic syndrome
Synonym/Ophthalmoplegia plus Syndrome
Synonym/Ophthalmoplegia/heart block/retinitis pigm.
Synonym/Ophthalmoplegia/Pigment retinal degen/Cardiomyopathy
Synonym/Ophthalmoplegia-plus syndrome
Synonym/Ophthalmoplegic mitochrondrial myopathy
Synonym/Ragged red fiber disease
Treatment
Drug Therapy
RX/No effective/definitive treatment yet available
Clinical Manifestations
Signs & Symptoms
Adolescent
Arm/shoulder weakness (symptom)
Bilateral Shoulder Muscle pain/Weakness
Muscle Atrophy
Muscle weakness
Pelvic/limb girdle weakness/bilateral
Proximal muscle weakness
Proximal symmetrical muscle weakness
Shoulder/limb girdle weakness/bilateral
Unable to stand up from sitting position
Weak/Weak as a kitten (symptom)
Weakness, arms, bilateral
Winging of scapula
Hyporeflexia/DTRs decreased
Limb weakness/signs
Waddling Trendelenberg Gait
Weakness/Diffuse motor loss
Child won't walk
Balance problems
Difficulty raising arms
Enervated/extreme acute fatigue
Falling
Muscle Wasting/Diffuse
Weakness
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Life-span decreased
Course/Progressive
Course/Progressive/slowly chronic illness
Onset/Young adult
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Young Adult
Family History
Family history/Muscle disease/Muscular dystrophy
Sex & Age Groups
Population/Adolescent
Population/Adult ('twenties')
Population/Adult/all
Population/Child
Population/Children/all
Population/Male
Population/Pre-teen
Population/Twenties-Adult/female
Population/Twenties-Adult/male
Population/Young adult
Laboratory Tests
Abnormal Lab Findings
Aldolase, serum (Lab)
Diagnostic Test Results
Pathology
BX/Muscle Biopsy Abnormal
BX/Muscle biopsy/Fiber atrophy
BX/Muscle biopsy/Increased interstitial tissue
BX/Muscle biopsy/Increased sarcolemma nuclei
BX/Muscle Biopsy/Loss striation/swelling
BX/Muscle biopsy/muscle fiber degeneration
Electrodiagnosis
EMG/Abnormal findings
EMG/Muscular Dystrophic signs
Associated Diseases & Rule outs
Associated Disease & Complications
Erbs Muscular Dystrophy/Limb Girdle MD
Muscular dystrophy
Ineffective Cough or Reflex
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Atrophic disorders (ex)
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Degenerative/necrosis disorder (category)
PROCESS/Developmental/delayed expression disorder (ex)
PROCESS/Dystrophic disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Use/Age/atrophic disorder (category)
PROCESS/Muscular dystrophy disorder (ex)
Synonyms
Synonym
Synonym/Erb Juvenile Muscular dystrophy
Synonym/Limb Girdle Muscular dystrophy/Erb's
Synonym/Muscular Dystrophy/Limb girdle type
Synonym/Scapulohumeral muscular dystrophy/Erb's
Treatment
Other Treatments
TX/Physical therapy
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