34301 to 34400 most common queries

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

• Cysts May be Solitary (30%)
• Cysts Occur Less Commonly on Any Part of the Body Where Hair Grows
• Cyst Occur Most Often on the Scalp
• Superior Pectus Carinatum
• Abnormality of the Odontoid Process
• Sagittal Cleft of Vertebral Body of L5
• L5-S1 Fusion
• Onset 13-15 Years
• Osteolysis of Scaphoids
• Osteolysis of Patellae (Bone Loss of Posterior Patella)
• Onset at Age 32-45 Years
• Atrophy of Intrinsic Foot Muscles
• Atrophy of Intrinsic Hand Muscles
• Mild Contractures of the Hands
• EMG Shows Myopathic Changes
• Muscle Biopsy Shows Rimmed Vacuoles
• Muscle Biopsy Shows Dystrophic Changes
• MRI Shows Fatty Infiltration of Affected Muscles
• Proximal Muscle Weakness (Late Symptom)
• Asymmetric Muscle Involvement
• Neurologic Features Occur in Adulthood
• Foot Deformities Are Present in Infancy or Childhood
• Occasionally Onion Bulb Formations (Sural Nerve Biopsy)
• Giant Axonal Swelling with Neurofilament Accumulation
• EMG Shows Chronic Denervation
• Distal Sensory Loss of Tactile and Vibratory Senses
• Distal Limb Muscle Atrophy due to Peripheral Neuropathy
• Onset at Birth or in Early Childhood
• Mutation in the Cathepsin D Gene
• Decrease or Absence of CTSD Protein Cathepsin D in Immunostaining
• Premature Closure of Fontanels
• Overriding Sutures
• Myelin-like Lamellar Structures in Schwann Cells
• Granular Osmiophilic Cytoplasmic Deposits in Schwann Cells
• Autofluorescent Lipopigment in Neurons
• White Matter Lacks Axons and Myelin
• Glial Activation
• Neuronal Loss in the Cerebrum and Cerebellum
• MRI Shows Cerebral Atrophy
• Loss of Motor Functions
• Some Patients May Show Normal Early Development
• Thin or Notched Neuroretinal Rim
• Optic Disc Hemorrhage
• CDR ≥ 0.7
• Bilateral Intraocular Pressures Greater than or Equal to 22 mmHg
• Anterior Chamber Angle Open with Grade III-IV Gonioscopy
• Onset at Age 12-35 Years
• Frequency among Jewish Iranian Individuals from Isfahan Increased
• Adults May Be Asymptomatic
• Symptoms Ameliorate with Age
• Possibly Acute Life-Threatening Crises in Infants
• Ratio 18-OHB to Aldosterone Increased
• 18-Hydroxycorticosterone Increased
• Smaller Repeat Lengths in Younger Generations
• No Congenital Form
• Frontal Balding, Male Pattern Baldness
• Decreased Serum IgG and IgM
• Type-2-Muscle Fiber Atrophy
• Nuclear Clumps
• Angulated Atrophic Muscle Fibers
• Deep Finger Muscle Weakness
• Iridescent Posterior Subcapsular Cataract
• No Mental Retardation
• Follicle Stimulating Hormone Elevated
• Clinical Heterogeneity of Multiminicore Disease
• Non-Progressive or Slowly Progressive
• Caused by Mutations in the Selenoprotein N-1 Gene
• Nasal, High-Pitched Voice
• Mallory-Like Bodies
• Plaques Immunoreactive for Desmin and Alpha-B-Crystallin
• Amorphous Granulofilamentous Material Associated with Z-Discs
• Hyaline Plaques with Absent Oxidative Activity
• Myofibrillar Lesions
• Neck Flexion Limited
• Flat Thorax
• Short Limbs Become More Apparent during Childhood
• Disproportionately Short Limbs - Often Noted at Birth
• Loose, Redundant Skin on Fingers
• Short, Broad Phalanges
• Broad Middle and Proximal Phalanges
• Short Broad Phalanges - Progressive Shortening in First Year
• Broad Short Fingers
• Progressive Shortening of Ulna in First Year of Life
• Progressive Shortening of Radius in First Year
• Progressive Shortening of Humerus in First Year of Life
• Bowed Forearms
• Thoracolumbar Interpediculate Narrowness
• Anterior Beaking
• Oval Vertebral Bodies in Infancy
• Small to Normal Birth Length
• Final Adult Height 38-49 Inches
• Superiorly Curved Clavicles
• Enlarged Knee Joints
• Symptoms Progress with Worsening Myopathy
• Phenotypic Variation in Severity and Symptoms
• Later Childhood Onset Has Been Reported
• Onset Usually in Infancy
• Muscle Biopsy Shows Endplate Myopathy
• Slow, Delayed Pupillary Light Reflex
• Abnormal Encasement of Presynaptic Membrane by Schwann Cells