34401 to 34500 most common queries

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

• 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
• Thick Proximal and Middle Phalanges
• 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
• Azygous Connection
• 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
• Patients Have Supernumerary Chromosome
• Fundus with Peripheral 'Bony Spicules'
• Blindness by Third Decade
• 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
• 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
• Short Iliac Wings
• Anterior Tongue-Like Deformity
• Electroretinogram Decreased
• Onset at Age 4 Years
• 'Curvilinear' Profiles Ultrastructurally
• Fibroblasts Demonstrate Rapid Growth with Increased DNA Synthesis
• Fibroblasts Show Increased Sensitivity to Apoptosis
• Fibroblasts Attach Poorly
• Fibroblasts Small and Rounded with Prominent Nucleoli
• Apoptotic Neurons
• 'Ballooned' Neurons with Autofluorescent Fine Granular Material
• Slowing with Polyspike-and-Slow-Waves
• Psychomotor Deterioration
• Onset in Early Infancy between 2 Weeks and 3 Months
• Inability to Reach
• Tonic Spasms
• Severe Metabolic Acidosis
• Increased Serum Direct Bilirubin
• Onset in Middle Age - 44 to 60 Years
• Mutation in the Amyloid Precursor Protein Gene
• Hyaline Thickening of Cerebral Arteries
• Recurrent Strokes
• Progressive Dementia with Onset of Disease
• Progressive Permanent Flexion Limitation of Toes
• Progressive Permanent Flexion Limitation of Fingers
• Hyporeflexia in Affected Muscles
• Normal Cochlear Microphonics
• Normal Otoacoustic Emissions
• Normal Outer Hair Cell Functions
• Abnormal Amplitude Modulation Detection
• Abnormal Gap Detection
• Abnormal Auditory Temporal Processes
• Abnormal or Absent Auditory Nerve and Brainstem Responses
• Hearing Loss - Neural Type
• Average Age at Onset 18.6 Years
• No Auditory Brainstem Response
• Myenteric and Submucosal Ganglia in the Bowel Decreased
• Mutation in the SRY Box 10 Gene
• Distal Muscle Weakness due to Peripheral Neuropathy