28501 to 28600 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Abnormal Bowel Regulation due to Autonomic Dysfunction
• Abnormal Bladder Regulation due to Autonomic Dysfunction
• Impotence Due to Autonomic Dysfunction
• Lack of Inflammatory Infiltrate
• Astrocytes Show Reactive Changes
• Numbers of Astrocytes Decreased
• Oligodendrocytes with Foamy Cytoplasm
• Cavitating White Matter Degeneration
• Brain Imaging Shows Decreased White Matter Density
• Symmetric Demyelination
• Diffuse Leukoencephalopathy
• Absent Twelfth Rib
• Small First Ribs
• Onset Third-Fourth Decade
• Mutation in the ATP2C1 Gene
• Variable Expression
• Median Age at Diagnosis 7 Years
• Severe Progressive Ulceration of Lower Extremities
• Allelic Disorder to Hyperkalemic Periodic Paralysis
• Penetrance in Females Reduced
• One Third of Cases Are Sporadic
• Onset Usually in Second Decade
• Hypokalemia Occurs during Paralytic Attacks
• Acetazolamide May Worsen Symptoms
• Tubular Aggregates in Muscle Fibers May Occur
• Vacuolar Myopathy May Occur
• Myotonia is Usually Not Seen
• Commonly Progressive Interictal Weakness
• Attacks Relieved by Potassium Administration
• Attacks May Present during or after Sleep
• Attacks Last 4-24 Hours
• Allelic Disorder to Potassium-Aggravated Myotonia
• Acetazolamide Often Effective
• Hyperkalemia during Attacks
• Myopathic Findings on Biopsy Have Been Occasionally Reported
• Myotonia Is Present in Majority of Cases
• Attacks Precipitated by Potassium
• Attacks Precipitated by Cold Temperature
• Attacks Precipitated by Rest after Exercise
• Muscle Weakness, Predominantly of Extremities and Tongue
• Mutation in the CTSC Gene
• No Palmoplantar Keratosis
• Swollen Achromatic Cells (Pick Cells)
• Argyrophilic Hyperphosphorylated Tau-Positive Inclusions - Pick Bodies
• Atrophy Possibly More Severe in Left Hemisphere
• Frontotemporal Lobar Atrophy with Knife Edge Distinction
• Majority of Cases Are Sporadic - Often in Tall Thin Men
• Mutation in the Folliculin Gene
• Subpleural Blebs
• Telangiectases Persist in Adulthood
• Caused by Mutations in the Kindlin 1 Gene (KIND1)
• Diffuse Skin Wrinkling (Especially Dorsa of Hands and Feet)
• Telangiectases in Sun-Exposed and Non-Exposed Skin
• Diffuse Skin Atrophy (Especially Dorsa of Hands and Feet)
• Neonatal Acral Blistering
• Pseudoainhum of Toes
• Poland Syndrome Can Be Associated with Moebius Syndrome
• Autosomal Dominant Inheritance Reported
• Occurs on Right Side in 75% of Cases
• All Features Are Unilateral
• Hypoplasia of Supraspinatus Muscle
• Hypoplasia of Infraspinatus Muscle
• Unilateral Absence of Breast
• Unilateral Hypoplasia or Absence of Areola
• Unilateral Hypoplasia or Absence of Nipple
• Unilateral Hypoplasia or Absence of Pectoralis Major Muscle
• Rarely Compression of Inferior Vena Cava and Secondary Edema
• Lower Total Cholesterol
• Total Bilirubin Increase May Occur
• Slightly Increased Alkaline Phosphatase May Occur
• Back Pain due to Mass Effect of Liver
• Early Satiety due to Mass Effect of Liver
• Rare Obstruction of Hepatic Venous Outflow (Ascites)
• Rarely Rupture of Cysts
• Rare Infection of Cysts
• Rare Hemorrhage from Cysts
• Cysts of Biliary Epithelial Origin
• Multiple Fluid-Filled Cysts throughout the Liver
• No Evidence of Renal Cysts
• Absence of Cerebral Aneurysms
• Cranial Foramen Impingement
• Spots in 95% of Patients
• Mutations in the Serine-Threonine Protein Kinase 11 Gene
• Hyperpigmented Macules of Buccal Mucosa
• Hyperpigmented Macules of Lips
• Recurrent Colicky Abdominal Pain
• Hamartomatous Polyps - Stomach to Rectum
• Gynecomastia with Sertoli Cell Tumors
• Typical Onset in Adulthood
• Diminution of Sense of Taste
• Gastrointestinal Hamartomatous Polyps
• Decreased Penetrance
• Neuropsychologic Cognitive Abnormalities
• PBG Deaminase Deficiency Possibly Clinically Asymptomatic (90%)
• Attacks More Common in Women
• Acute Attacks Rarely Occur before Puberty
• During Acute Attacks, Urine δ-ALA and PBG Increased
• Erythrocyte Porphobilinogen Deaminase Deficiency
• Motor Sensory or Autonomic Neuropathy
• Most Common Form of Porphyria