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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