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Fat Deposits in Muscle Fibers Prominent Forehead High Sloping Forehead Macrovesicular Hepatic Steatosis Oligohydramnios in Some Cases Lipid Accumulation in Kidney Especially in Proximal Convoluted Tubules Dysplastic Renal Parenchyma Enlarged Polycystic Kidneys Paraventricular Cysts Electroretinogram Response Decreased Onset within First 6 Months of Life Flexed Fingers Mild Achilles Tendon Contractures Mild Elbow Contractures Muscle Biopsy Shows Decreased Glycosylation of Alpha-Dystroglycan Increased Sensitivity to Effects of Medication in PMs Ultrarapid Metabolizers Have Multiple Copies of the CYP2D6 Gene CYP2D6 Enzyme is Located in the Endoplasmic Reticulum of the Liver PMS Show Decreased Levels of Hepatic CYP2D6 Enzyme PMs Shows Deficient Oxidation of Debrisoquine Association between Poor Metabolizers and Parkinson Disease Poor Feeding due to Muscle Weakness Autosomal Recessive Inheritance Is Most Common Favorable Response to 3,4-Diaminopyridine Mutations in the CHRNE Gene Muscle Biopsy Shows Preserved Junctional Structure Muscle Biopsy Shows Preserved Nerve Terminals Muscle Biopsy Shows Increased Length of Endplate Regions Number of Endplate Regions Increased (Muscle Biopsy) Muscle Biopsy Shows Decreased Numbers of AChR Acetylcholine Receptor Induced Ion Channel Opening Shortened Small Miniature Endplate Currents (MEPC) Small Miniature Endplate Potentials Founder Effect in Gypsy Groups (1267delG) Favorable Response to Acetylcholinesterase Inhibitors Facial Dysmorphism is Uncommon Arthrogryposis Multiplex in Severe Cases Absence of Acetylcholine Receptor Autoantibodies Muscle Biopsy Shows Fiber Atrophy Type 2 Muscle Biopsy May Show Mild Kinetic Abnormalities of the AChR Muscle Biopsy Shows Decreased Secondary Clefts Muscle Biopsy Shows Small Nerve Terminals Preserved Junctional Folds (Muscle Biopsy) Muscle Biopsy Shows Poor Development of the Postsynaptic Membrane Decreased Amplitude of Miniature Endplate Potentials Weakness May Be Exacerbated by Illness or Stress Hypotonia - Fixed Normal Facies Thick Proximal and Middle Phalanges Bowing of Tibia Flat Acetabuli Severe Platyspondyly Ovoid Vertebral Bodies in Infancy Possibly Asymptomatic Mutation in the CD8A Gene Recurrent Bacterial Respiratory Infections Isolated Absence of CD8+ T Cells Normal Sural Nerve Biopsy Normal Sensory Action Potentials Normal Compound Motor Action Potentials Prolonged Latency of Somatosensory Evoked Potentials No Cerebellar Signs Azygous Connection Upper to Lower Segment Ratio Decreased Relative Paracentral Scotoma in 2:3 of Patients Well Preserved Focal Macular Cone ERG Rod Function Preserved Defective Color Vision in Some Patients Partial Optic Atrophy Excess Nuchal Skin Misplaced Anus Tight Anal Sphincter Low-Set Nipples 13 Pairs of Ribs Patients Have Supernumerary Chromosome Fundus with Peripheral 'Bony Spicules' Blindness by Third Decade Ring Scotoma (Early Symptom) Atrophic Sural Nerve Absence of Sensory Nerve Conduction Velocities Immobility by the Third Decade Cataplexy Often Triggered by Strong Emotions Cataplexy Paroxysmal Weakness or Paralysis Spastic or Hyperactive Bladder Somatosensory Evoked Potentials Decreased Normal Muscle Strength Aplasia or Atrophy of the Dilatator Pupillae Muscle Nonreactive Fixed Narrowing of the Pupil Death Usually within First Weeks of Life Neonatal-Onset Nephrotic Syndrome Caused by Mutation in the Laminin Beta 2 Gene Renal Biopsy Shows Diffuse Mesangial Sclerosis Death in First Weeks of Life without Dialysis Early-Onset End-Stage Renal Disease Psychomotor Retardation in Those That Survive Disproportionate Short-Limbed Short Stature Widened Sclerotic Costochondral Joints Bipartite Trochlea Irregular Patellar Contour Small, Irregular Capital Femoral Epiphyses