33701 to 33800 most common queries

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

• 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
• Episodic Weakness or Flaccid Paralysis
• 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
• Digital Webbing
• 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 Syndactyly
• 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
• Urine Occasionally Port Wine in Color Secondary to Porphobilinogen
• During Acute Attacks, Urine δ-ALA and PBG Increased
• Erythrocyte Porphobilinogen Deaminase Deficiency
• Motor Sensory or Autonomic Neuropathy
• More Common in Men than Women
• Most Common Form of Porphyria
• Liver and Red Cell Uroporphyrinogen Decarboxylase Reduced
• Incidence of Hepatocellular Carcinoma Increased
• Skin Manifestation Less Frequently Observed in Cold Climates
• Attacks Often Drug-Induced
• Protoporphyrinogen Oxidase Activity Decreased (50%)
• Increased Urine Porphyrins At Times
• Fecal Protoporphyrin and Coproporphyrin Increased
• Cone-Shaped Epiphyses (2nd-4th)
• Normal Tarsal Bones
• Absent Fifth Metatarsal
• Absent 5th Phalanges
• Lunate Triquetral Fusion
• Aplasia of the 5th Metacarpal
• Partial Complete Absence of 5th Phalanges
• Normal Ulnae
• Mild Radial Bowing
• Distinct from Premature Centromere Division
• Possible Increase of Aneuploidy in Offspring
• Fertility Reduced
• Affected Females May Have Increased Spontaneous Abortions
• Individuals with the PCS Trait Are Phenotypically Normal
• Shortened Metaphase
• PCS Involves Most of All Chromosomes of a Metaphase
• Bifid Sacrum
• Hemisacrum S2-S5
• Preserved Vertebra S1