Disease Comparison Results (show all mode) for Erb's Muscular Dystrophy/Limb Girdle MD and Shwachman (Shwachman-Diamond) syndrome

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Shwachman (Shwachman-Diamond) syndrome

Found: 119 | Differences: 109

Erb's Muscular Dystrophy/Limb Girdle MD

Found: 83 | Differences: 73

Erb's Muscular Dystrophy/Limb Girdle MD and Shwachman (Shwachman-Diamond) syndrome sharing 10 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms
Adolescent
Scaling/Skin finding
Chronic Diarrhea in a Child
Diarrhea and Weight Loss
Diarrhea in Children
Diarrhea, chronic
Fatty food intolerance
Poor weight gain/child
Short arms/legs
Flaring costal margins
Recurrent chest infections/bronchitis/sign
Flaring lower rib cage
Short Limbs Deformity
Growth/development delay
Short stature
Short stature Child
Weight Loss
Clinical Presentation & Variations
Presentation/Recurrent pneumonia Child
Presentation/Pancreas Bone marrow Skeletal Growth problems
Presentation/Pancreas Insufficiency Skeletal Anomalies Marrow dysplasia
Presentation/Otitis Media Recurrent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Anemia
Family history/Blood disease
Family history/Pancreas disorder/insufficency
Family history/Skeletal malformations
Family history/Immune defects
Sex & Age Groups
Population/Adolescent
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Preschool child
Laboratory Tests
Abnormal Lab Findings - Decreased
WBC
Neutrophiles (Lab)
WBC/White Blood Cell Count/Leukocytes (Lab)
Abnormal Lab Findings - Increased
Fetal hemoglobin (Lab)
Platelet count (Lab)
Diagnostic Test Results
Pathology
Bone marrow/Myeloid arrest
BX/Bone Marrow Biopsy/Abnormal
BX/Bone marrow biopsy/hypocellular
X-RAY
Xray/Chest abnormal
Xray/Chest/Lung fields/Abnormal
Xray/Anomalous rib cage/congenital
Xray/Flaring of ribs/anterior/Chest
Xray/Ribs Abnormal/Deformities
Xray/Ribs costochondral thickening
Xray/Ribs thickened/short
Associated Diseases & Rule outs
Associated Disease & Complications
Anemia
Anemia, aplastic
Bacterial diseases
Dwarfism
Fat-soluble vitamin deficiencies (A,D,E,K)
Granulocytopenia/Neutropenia
Infections
Leukemia
Malabsorption/Steatorrhea syndrome
Malnutrition/Starvation
Nanism/dwarfism
Otitis media
Otitis media, chronic
Pancreatic insufficiency
Pancytopenia
Pneumonia
Pneumonia, bacterial
Pneumonia/Bronchopneumonia
Rib anomalies/Hypoplastic/deformed
Schwachman syndrome
Shwachman (pancreas/neutropenia) syndrome
Skeletal dysplasia
Skeletal/bone malformations
Thoracic deformity/congenital
Thrombocytopenia
Thrombocytopenia in Children
Thrombocytosis
Disease Synergy
Synergy/Parvovirus B19 marrow/effect
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
CLASS/Leukocyte involvement/disorder (ex)
CLASS/Marrow involvement/disorder (ex)
CLASS/Platelet disorder (ex)
CLASS/Pancreas/accessory (category)
CLASS/Multisystem/organ involvement/pathology (ex)
Pathophysiology
Pathophysiology/Gene locus 7q11
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Constitutional pancytopenia
Pathophysiology/Leukocyte cytoskeletal defect
Pathophysiology/Fat Malabsorption
Pathophysiology/Fat soluble Vitamin Malabsorption
Pathophysiology/Metaphysis dysplasia/dysostosis
Pathophysiology/Chemotaxis failure/phagocytes/effect
Pathophysiology/Immune physiology/defective
Pathophysiology/Gene locus Chromosome 7q
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Constitutional/essential disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditary developmental disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Variant expressions/Subsets (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Synonym/Bodian-Shwachman syndrome
Synonym/Burke syndrome
Synonym/Congenital pancreas lipomatosis
Synonym/Lipomatosis pancreas, congenital
Synonym/Pancreatic insufficiency with bone marrow dysfunction
Synonym/Pancreatic insufficiency/Neutropenia syndrome
Synonym/Shwachman-Bodian syndrome
Synonym/Shwachman-Diamond syndrome
Treatment
Drug Therapy
RX/G-CSF (Nupogen/Filgrastim)
SX/Bone marrow transplant
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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