Disease Comparison Results (show all mode) for Cystic fibrosis (mucoviscidosis) and Myotonia congenita (Thomsens d.)

Ads

Myotonia congenita (Thomsens d.)

Found: 103 | Differences: 82

Cystic fibrosis (mucoviscidosis)

Found: 417 | Differences: 396

Cystic fibrosis (mucoviscidosis) and Myotonia congenita (Thomsens d.) sharing 19 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Hyperextensable Joints Infant
Gray Hair
Gray hair, premature
Hair loss
White Hair
Delayed male adolescence/pubescence
Tongue Protrudes Infant
Cramping in Extremities
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscle spasticity
Muscle stiffness/rigidity
Muscle weakness/with repetitive challenge
Muscles Soft/Doughy Infant
Myokimia/Muscle pulling sensation
Myotonic like rigidity of muscles
Percussion myotonia/delayed sign
Rolling Over Delay Infant
Unable to release/relax grip
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Dysarthria
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Hyporeflexia/DTRs decreased
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Motor slowing
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Apnea In Children
Apnea In Infants/Newborn
Shallow Breathing Infant
Difficulty Talking
Falling
Muscle Wasting/Diffuse
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Muscle disease/Muscular dystrophy
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Hyperprolactinemia
Abnormal Lab Findings - Decreased
IGG/Immunoglobulin G (Lab)
pO2, arterial blood (Lab)
URINE 17-Ketosteroids
Abnormal Lab Findings - Increased
Aldolase, serum (Lab)
Carbon Dioxide Total Content/CO2
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
Creatine, serum (Lab)
Insulin level (Lab)
Lactic Dehydrogenase (LDH LH) (Lab)
PCO2, arterial blood (Lab)
Prolactin (Lab)
URINE Creatine
URINE Myoglobin
Diagnostic Test Results
Electrodiagnosis
EMG/Abnormal findings
EMG/Insertional irritability
EMG/Myotonic muscle activity
Pulse oximetry/low O2 saturation
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Myotonia atrophica
Associated Disease & Complications - Causes
Acidosis, respiratory
Apnea
Breech/difficulty delivery/lie
Cardiac conduction defects
Cognitive/learning disability
Facial nerve palsy/secondary
Gastroparesis/atony
Hypoxemia
Hypoxia, systemic
Myoglobinuria
Myotonia congenita
Neonatal Hypotonia/Floppy Baby Syndrome
Gastropathy Atonic
Akinetic Rigid Syndrome
Facial Paralysis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Leydig cell function decrease/defect
Process
PROCESS/Hereditofamilial (category)
PROCESS/Movement disorder (ex)
Synonyms
Synonym
Synonym/Myotonia hereditaria
Synonym/Thompsen's disease
Clinical Manifestations
Signs & Symptoms
Edema Children
Blue lips
Clubbing
Clubbing of fingers/toes
Clubbing with Cyanosis
Cyanosis
P2 sound accentuated
Right ventricular heave
Finger wrinkling/hot water challenge/increased
Purpura
Delayed adolescence/secondary sex changes
Delayed female adolescence
Delayed male adolescence/pubescence
Stunted growth
Low birth weight/newborn/SGA/Small for gestational age
Abdominal bloating
Abdominal Bloating in Children
Abdominal Distension
Abdominal Distension in Children
Abdominal distension/protrusion/sign
Abdominal Distention
Abdominal fullness feeling
Acute Diarrhea
Acute Diarrhea in Children
Anorexia Decreased appetite
Anorexia in Children
Anorexia in Infant
Appetite increased
Bloating and Gas
Bloating and 'gas'/Flatulence
Bulky stool
Chronic Diarrhea in a Child
Clay colored/Pale stool
Constipation Children
Constipation in infants
Diarrhea
Diarrhea and Weight Loss
Diarrhea in Children
Diarrhea, chronic
Diarrhea, recurrent
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Fatty food intolerance
Fatty stools/Fecal fat /Greasy stool
Feeding/Apetite Problems Child
Flatulence
Flatus/gas foul smelling
Foul stool
Indigestion
Infant abdominal distension/bloating
Malnourished/poor nutrition status/signs
Polyphagia
Poor weight gain/child
Protruberant Abdomen
Stool Bulky/greasy/frothy/malodorous
Stool color/appearance abnormal
STOOL Light colored
Voluminous/liquid stool
Weight loss good appetite
Weight loss in Children
Parotid swelling
Saliva thick/sticky character
Salivary Gland Enlargement
Acute Cough in Children
Bronchospasm signs
Cough
Cough Acute
Cough Chronic
Cough Chronic Productive
Cough, productive
Dyspnea
Dyspnea at rest
Hemoptysis
Hemoptysis, massive
Localized decreased breath sounds
Lung signs/abnormality
Noisy Breathing
Noisy Breathing Child
Rales
Recurrent chest infections/bronchitis/sign
Recurrent dyspnea/episodes
Rhonchi/coarse rales
Shortness of breath/SOB
Sputum production
Voluminous phlegm production
Wheezing
Wheezing with bronchitis
Pancreatic symptoms/signs
Nose blocked/stuffy
Runny nose/rhinorrhea
Snoring
Chronically ill patient/signs
Growth/development delay
Heat intolerance/Warm all the time
Infant/salty taste
Muscle Wasting/Diffuse
Short stature
Short stature Child
Sickly kid syndrome
Weight Loss
Clinical Presentation & Variations
Presentation/Infertility Male Normal Androgens
Presentation/Bowel obstruction Infant
Presentation/Pneumonia Chronic Persistent
Presentation/Recurrent Bronchitis LRI
Presentation/Recurrent pneumonia Child
Presentation/Wheeze Cough Dyspnea Infant
Presentation/Pancreatitis Kids Recurrent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Ashkenasi Jewish population
Jewish population
Population Caucasian/White
Past History
Past history/Pneumonia
Established Disease Population
Patient/Cystic fibrosis
Population Group
Child
Population/Pediatrics population
Young Adult
Family History
Family History Pancreas Disorders
Family history/Parental consanguinity
Family history/Lung disease
Family history/Lung disease/unusual type
Family history/Pancreas disorder/insufficency
Sex & Age Groups
Population/Adult/all
Population/Child
Population/Children/all
Population/Infant female
Population/Old child
Population/Preschool child/boy
Population/Young adult
Laboratory Tests
Microbiology & Serology Findings
Microlab/Bacteroides/sputum culture
Microlab/Sputum/Pseudomonas cultured
Microlab/Sputum/Staphylococcus Aureus cultured
Abnormal Lab Findings (Non Measured)
SEMEN Analysis Abnormal
Abnormal Lab Findings (Non Measured)
Chorionic Villous Sampling Abnormalities
DNA CF Region Sequencing Screen Positive
DNA CF/Mutations Screen Positive
DNATest specific/genetics laboratory/abnormality (Lab)
Hypoelectrolytemia
Immunoreactive Trypsinogen (IRT) High Screen
STOOL Muscle fibers/striated muscle
STOOL Pancreatic elastase (PE-1) low/ abnormal (labs)
Abnormal Lab Findings - Decreased
25-OH Cholecalciferol/25-OH Vit D/Vit D3 level (Lab)
Albumin, serum (Lab)
Amylase, serum (Lab)
Calcium, serum (Lab)
Chymotrypsin (Lab)
Folic acid/Folate (Lab)
Free fatty acids/FFA/Non-esterified (Lab)
Glucagon (Lab)
Growth hormone/STH, plasma (Lab)
Hematocrit (Lab)
Hemoglobin (Lab)
Insulin level (Lab)
Lipase (Lab)
pO2, arterial blood (Lab)
Potassium, serum (Lab)
RBC/Red Blood Count (Lab)
SEMEN Sperm count
Sodium, serum (Lab)
Triglyceride lipase (Lab)
Trypsin (Lab)
Vitamin E (Tocopherol) (Lab)
Vitamin K (Lab)
Abnormal Lab Findings - Increased
SWEAT Chloride
SWEAT Sodium
Amylase, serum (Lab)
CA19-9 Carbohydrate/Glycoprotein Antigen (Lab)
Carbon Dioxide Total Content/CO2
Chloride serum (Lab)
Gamma globulin (Lab)
Gene probe/positive (Lab)
Globulin, serum (Lab)
Glucose, blood (Lab)
IGA/Immunoglobulin A (Lab)
IGG/Immunoglobulin G (Lab)
Iron, serum (Lab)
MCV/Mean Corpuscular Volume (Lab)
PCO2, arterial blood (Lab)
pH, arterial blood (Lab)
RBC/2,3 Diphosphoglycerate
Trypsinogen serum (Lab)
Azospermia
URINE 5-Hyroxyindole acetic acid
URINE Glucose
STOOL 72 hour Fat quantitative
STOOL Alpha-trypsin/quantitative
STOOL Fat Sudan stain
SALIVA Sodium
Diagnostic Test Results
Other Tests & Procedures
TEST/Sweat test abnormal
Amniocentesis/Abnormality
Gastroscopy/Esophageal varices
PFT/Abnormal pulmonary function tests
PFT/Bronchodilator paradoxical response/inhalers
TEST/Secretin stimulation abnormal
TEST/Secretin-Pancreozymin Abnormal
Pathology
BX/Liver biopsy/Abnormal
BX/Liver biopsy/Bile ducts/inspissated mucus/material
BX/Liver biopsy/Fatty change in liver tissue
BX/Lung Abnormal (Biopsy)
BX/Lung biopsy/Eosinophilic alveolar material
BX/Lung biopsy/Focal fibrosis
BX/Lung biopsy/Inspissated mucus
BX/Lung biopsy/Proteinaceous material/acinus/alveolar
PATH/Lung/Focal atelectasis
PATH/Blocked/obstructed ducts/pancreas
PATH/Pancreas/Amorphous/eosinophilic acinus material
PATH/Pancreas/Inspissated mucus/material in ducts
PATH/Pancreatic biopsy/Abnormal
Electrodiagnosis
Pulse oximetry/low O2 saturation
EKG (ECG)
EKG/P Wave > 2.5 mV inferior leads (ECG)
EKG/Peaked tall P Waves 2,3,F leads (ECG)
EKG/P-Pulmonale pattern (ECG)
EKG/R pattern V1-V3
EKG/Prolonged QT interval (ECG)
X-RAY
Xray/Calcified artery/veins finding
Xray/Chest abnormal
Xray/Abdominal calcifications/ABD
Xray/Abdominal film abnormalities/ABD/KUB
Xray/Muscle calcification
Xray/Soft tissue calcification/muscle/subcutaneous
Xray/Atelectasis, focal/Chest
Xray/Atelectasis, whole lung/Chest
Xray/Atelectasis/Chest
Xray/Basilar infiltrate/Chest
Xray/Bilateral basilar infiltrate/Chest
Xray/Bilateral upper lobe fibrous streaking/Chest
Xray/Chest film/extrapulmonary abnormal
Xray/Chest/Lung fields/Abnormal
Xray/Chronic pulmonary infiltrate/Chest
Xray/Hilar adenopathy bilateral/Chest
Xray/Hyperaeration/lung/Chest
Xray/Infiltrate, pulmonary/Chest
Xray/Lower lobe interstitial infltrate/Chest
Xray/Lung consolidation/Chest
Xray/Pneumonitis/pattern no infection/Chest
Xray/Pulmonary infiltrates, recurrent/Chest
Xray/Segmental infiltrate/Chest
Xray/Upper lobe lesion/Chest
Xray/Pancreatic calcifications/ABD
X-RAY With contrast
BE/Colon distended not obstructed (Xray)
SBS/Intestine loops dilated/non-obstruct (Xray)
SBS/Malabsorption pattern, intestinal (Xray)
UGI/Duodenum thickened folds
UGI/Esophageal varices
Ultrasound
Echo/Pulmonary artery hypertension
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Aspergillosis, invasive pulmonary type
Bronchiectasis
Bronchitis, acute
Celiac disease of childhood
Emphysema/COPD/Chronic lung disease
Immotile cilia syndrome
Lactose intolerance syndrome
Pertussis
Sprue (gluten enteropathy)
Vitamin A deficiency/Avitaminosis A
Asthma Children
Associated Disease & Complications - Causes
Acidosis, respiratory
Alkalosis
Anemia
Aspergillosis, mycetoma type, pulmonary
Aspergillosis/bronchopulmonary hypersensitivity
Asthma
Atelectasis, pulmonary
Bile duct obstruction
Bleeding esophageal varices
Bronchiectasis
Bronchiolitis
Bronchitis, acute
Bronchitis, chronic
Bronchocentric granulomatosis
Bronchus obstruction
Burkholdaria Cepacia Complex Infection
Cachexia/inanition/wasting
Cardiac arrhythmias
Cholecystitis, acute
Cholelithiasis
Cirrhosis
Cirrhosis, biliary , secondary
Constipation
Cor pulmonale
Cystic fibrosis (mucoviscidosis)
Diabetes mellitus
Edema of newborn
Emphysema/COPD/Chronic lung disease
Epididymitis
Esophageal varices
Fat-soluble vitamin deficiencies (A,D,E,K)
Fatty liver
Fecal impaction
Glucose intolerance
Growth retardation/failure
Heat stroke
Hilar adenopathy
Hypercapnea Hypercarbia
Hyperchloremia
Hyperglobulinemia
Hyperglycemia
Hypertrophic osteoarthropathy
Hypoalbuminemia Hypoproteinemia
Hypocalcemia
Hypochloremic alkalosis
Hypokalemia
Hyponatremia
Hypovitaminosis D Status
Hypoxemia
Hypoxia, systemic
IGA Glomerulonephritis Acquired
Infertility/sterility male
Infertility/sterility, female
Intestinal/bowel obstruction
Intestinal/Bowel Obstruction in Children
Intestine involvement/manifestaion
Malabsorption/Steatorrhea syndrome
Malnutrition/Starvation
Marasmus Inanition Cachexia Infant
Meconium Ileus
Meconium peritonitis
Middle lobe pneumonia
Middle lobe syndrome
Mucoid impaction/bronchus
Nasal obstruction
Nasal polyps/sinus polyps
Neonatal hyperbilirubinemia
Obstipation
Pancreatic insufficiency
Pancreatic pseudocyst
Pancreatitis, acute
Pancreatitis, chronic/recurrent
Peritoneal Effusion
Pleurisy
Pneumonia
Pneumonia, bacterial
Pneumonia, gram negative
Pneumonia, pseudomonas
Pneumonia, recurrent
Pneumonia, staphylococcus
Pneumonia/Bronchopneumonia
Pneumothorax
Pneumothorax, spontaneous
Portal hypertension
Protein losing enteropathy
Pseudomembranous colitis/C difficile colitis
Pseudomonas infection
Pulmonary hyper-reactivity syndrome
Pulmonary hypertension
Pulmonary Interstitial fibrosis, secondary
Rectal prolapse
Respiratory failure/Pulmonary insufficiency
Right congestive heart failure
Right ventricular failure
Serratia infection
Sialolithiasis
Sinusitis
Sinusitis, chronic
Small bowel obstruction
Staphylococcus aureus infection
Steatorrhea
Tracheobronchial obstruction
Upper lobe pneumonia
Vitamin E deficiency
Volvulus
Asthma Children
Atelectasis in Child
Chronic Respiratory Acidosis
Continued Hypercapnea
Diabetes mellitus/non-insulin dep/type II
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Pancreas/accessory (category)
CLASS/Pancreatic duct involvement/disorder (ex)
CLASS/Duct tissue disorder (ex)
CLASS/Exocrine gland (ex)
Pathophysiology
Pathophysiology/Chromosome 7 gene defect
Pathophysiology/Gene locus 7q31.2
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Fat Malabsorption
Pathophysiology/Fat soluble Vitamin Malabsorption
Pathophysiology/Malabsorption
Pathophysiology/Bleeding from Portal Veins
Pathophysiology/Alveolar consolidation
Pathophysiology/Bronchospasm
Pathophysiology/Excess bronchial secretions
Pathophysiology/Excess secretion/glairy mucus/bronchiols
Pathophysiology/Obstruction bronchus
Pathophysiology/Pulmonary precapillary hypertension
Pathophysiology/Upper lobe pneumonia/predelict
Pathophysiology/Pancreas exocrine cell injury
Pathophysiology/Chloride pump defect/cellular membrane
Pathophysiology/Exocrine tissue defect
Pathophysiology/Gene mutation G551D
Pathophysiology/Alkalosis Chloride responsive
Pathophysiology/Gene locus Chromosome 7q
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Ethnic predilection (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Synonym/CF
Synonym/Fibrocystic disease of the pancreas
Synonym/Mucoviscidosis
Treatment
Drug Therapy
RX/Acetylcysteine (NAC) inhalation
RX/Antibiotic
RX/Beta/adrenergic inhaler
RX/Bronchodilator
RX/Inhaled/Bronchodilator
RX/Ivacaftor (Kalydeco)
RX/Recombinant DNase inhalation
SX/Lung transplant
TX/Amniocentesis Indication
Other Treatments
TX/Chest physical therapy.
Ads