34301 to 34400 most common queries

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

• Erythrocyte AICAR Elevated
• Urine and Cerebrospinal Fluid 5-Amino-4-Imidazolecarboxyamide Elevated
• Urinary Bratton Marshall Test Positive
• Intrafamilial Variability
• Sensory Involvement (EMG)
• Sural Nerve Biopsy Shows Loss of Myelinated Fibers
• Decreased Touch Sensation
• Vibration Sense Abolished
• More Common in Females (Male-to-Female Ratio = 4:1)
• Loss of Subcutaneous Adipose Tissue from Upper Limbs and Trunk
• Progressive Loss of Facial Adipose Tissue
• Mild to Severe Mental Retardation
• Less Severe Loss of Unmyelinated Fibers
• Marked Loss of Myelinated Fibers (Sural Nerve Biopsy)
• Caused by Mutations in the Matrilin 3 Gene (MATN3 602109-0005)
• Irregular, Small Epiphyses
• Wide Metaphyses with Lateral Spurs
• Underossified Ischia
• Flat, Oval-Shaped Vertebral Bodies
• Mutation in the Insulin-Like Growth Factor 1 Gene
• Insulin-like Growth Factor I Decreased
• Small Eyes
• Onset at Age 18-65 Years
• Sensory Neuropathy Reported
• Incoordination of Trunk and Limbs
• Mutation in the PPM2C Gene
• PDH Phosphatase Activity Decreased
• Pyruvate Dehydrogenase Complex Activity Decreased
• Disialotransferrin and Asialotransferrin Increased
• Tetrasialotransferrin Levels Decreased
• Upper Limb Undergrowth
• No Visual Fixation
• Death Occurs before 12 Months of Age due to Cardiorespiratory Arrest
• Symptoms Develop Immediately after Birth
• Affected Infants Appear Normal at Birth
• Staccato Cry ('Goat-Like')
• Variable Heart Rate
• Abnormal Pattern of Respiration
• Ocular Muscle Palsies
• Poor Growth (History)
• Number of Sertoli Cells Decreased
• Number of Leydig Cells Decreased
• Arrested Cell Development in the Testes
• Variable Maturation of Genitalia in Males
• No Neuropathologic Findings in Brain Stem and Anterior Horn Cells
• Facial Nerve Weakness
• Visceroautonomic Dysfunction
• Mutation in the Titin Gene
• No Cardiomyopathy
• Secondary Decrease of Calpain 3 Protein Expression in Muscle
• No Facial Muscle Involvement
• Loss of Ambulation between Third and Sixth Decade
• Severe Disability within 20 Years of Onset
• Mild Distal Muscle Weakness
• Diffuse Erythematous Maculopapular Rash
• B-Cell Count Decreased
• Severe Malabsorptive Diarrhea
• MRI: Patchy Diffuse Hyperintensities
• Severely Delayed Development
• Z Disks with Abnormal Homogeneous Material
• Velopharyngeal Muscle Weakness
• Distal Muscle Weakness - Occurs Initially
• See Also Infantile and Late Onset CPT II Deficiency
• Sudden Death within First Days of Life
• Lipid Accumulation in Heart
• Absence of CPT II Protein
• Palmitate Oxidation Severely Decreased
• Tissue Triglycerides Increased
• Increased Tissue Long-Chain Fatty Acids
• Tissue Total and Free Carnitine Decreased
• Plasma Total and Free Carnitine Decreased
• Tissue Long-Chain Acylcarnitines Increased
• Long-Chain Acylcarnitines Increased
• Long Tapering Toes
• Extra Digital Creases in Digits 2-4
• Fat Deposits in Muscle Fibers
• 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 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