41301 to 41400 most common queries

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

• Responsive to Treatment
• May Have Increased Serum Parathyroid Hormone
• 1-25-Dihydroxyvitamin D3 Increased
• Curvatures of the Femur, Tibia, Fibula
• 'Bulging' Epiphyses
• Thin Cortex
• Mutation in the BSCL2 Gene
• Mutation in the GARS Gene
• Possibly Hammertoes
• Pes Planus in Some
• Pes Cavus in Some
• Mildly Reduced Vibratory Sense in 10% of Patients
• Motor Symptoms Develop Later - About 5 Years into Illness
• Subtle Personality and Behavioral Changes Are Presenting Signs
• Average Duration of Illness: 8 Years
• Average Age of Onset 57 Years
• Mutation in the CHMP2B Gene
• Reclusive Behavior
• Global Reduction in Cerebral Blood Flow on PET Scan
• Cortical Neuronal Loss
• Mutation in the RAB7 Gene
• Dystrophic Toenail
• Ulcers Often Lead to Infection and Amputation
• Distal Ulcers due to Sensory Neuropathy
• Distal Osteomyelitis or Necrosis due to Sensory Neuropathy
• Marked Distal Sensory Impairment
• Normal Sialophorin Gene
• Small and Large Vessel Vasculitis
• CD43 Defectively Expressed on Surface of Blood Cells
• Small Platelet Size
• IgG Normal
• CD8+ Cells Subset Decreased
• CD4+ Cell Subset Decreased
• Decreased CD3+ Cells Subset
• Abnormally Delayed Hypersensitivity in Skin Test
• Moderately Depressed Antibody Response to Polysaccharide Antigens
• Shovel-Shaped Maxillary Central Incisors
• Anterior Overbite
• Long, Slender Phalanges
• Long Slender Metacarpals
• Long Thumbs
• Hypoplastic Distal Digital Creases
• Slender Hands
• Hypoplasia of Distal Ulna
• Slender Long Bones
• Elbow Contracture
• Small Anterior Cranial Fossa
• Joint Contractures (Symptom Improves with Time)
• Downslanting Eyebrows
• Cerebellar Enlargement
• Caused by Mutation in the Proprotein Convertase 1 Gene
• Proglucagon Increased
• Increased Plasma Progastrin
• Insulin Decreased or Normal
• Small Intestine Biopsy Shows Villous Atrophy
• Malabsorption - Small Intestine
• Early-Onset Obesity
• Impaired Processing of Proopiomelanocortin
• Joint Replacement Often Necessary
• Onset of Symptoms in Childhood with Stiff, Painful Joints
• Mild Variability in Muscle Fiber Size
• Creatine Phosphokinase Mildly Increased
• Late Ossifying Epiphyses
• Impaired Synthesis of Sulfated Proteoglycans by Fibroblasts
• No Cartilage Staining with Toluidine Blue
• Metaphyseal Spurring
• Marked Shortness - Broad Tubular Bone
• Severe Micromelia
• Unossified Ischium and Pubis
• Slightly Less Ossified than Expected for Gestational Age
• Often Stillborn
• Occasionally Rib Fractures
• Symptoms Precipitated by Stress, Exertion, Fatigue, Alcohol
• Onset at Age 2-15 Years
• Second Most Common Form of Usher Syndrome Type 1
• Nonsyndromic Disorder
• Caused by Mutations in the Otoferlin Gene (OTOF)
• U- or Bowl-Shaped Audiogram
• Absence of Acoustic Reflex
• Absent Auditory Brainstem Response
• Severe to Profound Sensorineural Deafness
• Upper Limb Defects
• Cervicothoracic Vertebral Defects - Especially C5-T1
• External Ear Defects
• Short Stature (Adult Height <152 cm)
• Absent Proximal 2/3 of Vagina
• Absent or Hypoplastic Uterus
• Associated with the Tau H1 Haplotype
• Phenotypic Overlap with Frontotemporal Dementia
• May Show Good Response to Levodopa
• Median Survival: 5-7 Years
• Autosomal Dominant with Incomplete Penetrance
• Frontal Release Signs
• Tau Inclusions Are 'Flame-Shaped' or 'Tuft-Like'
• Tau Immunoreactive Inclusions in Neurons and Astrocytes
• Limb Dystonia (18%)
• Tremor (30%)
• Small Dysplastic Nails
• Hypoglycosylation of Plasma Glycoproteins
• Abnormal Isoelectric Focusing of Transferrin