29001 to 29100 most common queries

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

• Proximal and Distal Muscle Atrophy
• Profound Prelingual Sensorineural Deafness
• Mutation in the Insulin Receptor Gene
• Insulin-to-C-Peptide Ratio Elevated
• Fasting Hyperinsulinemia
• Blood-Spot Hydroxybutyryl-Carnitine Increased
• Mental Retardation due to Repeated Episodes of Hypoglycemia
• Allelic to CLN8
• Protracted Course of Disease
• Decrease in Seizure Frequency in Middle Age
• Age of Onset 5 10 Years
• Caused by Mutation in the CLN8 Gene (CLN8)
• Intracellular Granular Material on Ultrastructural Analysis
• Irritability Beginning at Puberty
• Cerebral Atrophy Progressive
• Mental Retardation by Age 30 Years
• Mental Deterioration Beginning 2 to 5 Years after Onset of Seizures
• Seizures Onset Age 5 to 10 Years
• Plasma 2-Methylbutyrylcarnitine Increased
• Global Developmental Delay if Untreated
• Diffuse Islet Cell Hyperplasia
• Pyruvate-Induced Insulin Secretion
• Exercise-Induced Hyperinsulinism
• Hyperinsulinemic Hypoglycaemia
• Congenital Contralateral Hemiparesis
• Mutation in the FGFR3 Gene
• Vertebral Height Increased
• Mean Age at Onset: 66.8 Years (Range: 47-77 Years)
• Neuroimaging Shows Cortical Atrophy
• Affects All Frequencies
• Profound Deafness
• Prelingual Onset
• Onset Usually in Adolescence
• Cysts May Become Calcified
• Cysts May Contain Degenerated Keratin
• Cysts Are Lined by Epidermal Cells
• Cysts Are Firm and Smooth
• Cysts May Disappear Spontaneously (10%)
• Cysts May Become Infected
• Cysts May Gradually Increase in Size
• Cysts May Be Multiple
• 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
• Mild Contractures of the Hands
• EMG Shows Myopathic Changes
• 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
• Onset at Birth or in Early Childhood
• Mutation in the Cathepsin D Gene
• Decrease or Absence of CTSD Protein Cathepsin D in Immunostaining
• 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
• Some Patients May Show Normal Early Development
• 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
• Angulated Atrophic Muscle Fibers
• Deep Finger Muscle Weakness
• 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