20001 to 20100 most common queries

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

• Noise Exposure Causes More Severe Hearing Loss at High Frequencies
• Hearing Loss Is Usually Severe by Age 20 Years
• Onset in Second Decade but Sometimes Earlier
• Sparse Axillary and Facial Hair
• Progressive Microcephaly (3 to 5 SD)
• Chronic Anemia
• Mutation in the TMEM216 Gene
• Loss of Primary Reflexes
• Severe Axial Muscle Weakness with Proximal Predominance
• Osteopenia
• Double Ring Sign of Lens
• Postnatal Failure to Thrive due to Gastroesophageal Reflux
• Recurrent Coughing Spasms
• Growth Hormone Low or Absent
• Age of Onset between 20 to 30 Years
• Hearing Loss Progresses to Profound Deafness
• Normal Vestibular Function
• Fat and Fibrous Tissue Increased
• Congophilic Eosinophilic Inclusions
• Muscle Biopsy Shows Atrophy
• Distal Lower Limb Anterior Compartment Weakness
• Variable Age of Onset
• Vibration Sense at the Ankles Impaired
• Slow, Irregular Postural Tremor
• Reduction of Voluntary Recruitment (EMG)
• Atrophy of the Motor Cortex in Older Patients (MRI)
• Loss of Motor Milestones
• Upper and Lower Motor Neuron Degeneration
• Mutation in the Otoancorin Gene
• Diagnosis Typically between Age 10 - 20 Years
• Lumbar and Sacral Spondylolisthesis
• Treatment with Enzyme Replacement Therapy
• Onset of Symptoms between 3 and 8 Years of Age
• Mild Pulmonary Hypertension
• Hypertrophic Tonsils
• Progressive Lumbar Gibbus
• Pachymeningitis Cervicalis and Spinal Cord Compression
• Distinction of MPS1 Types: Age at Onset, Progression, Mutation(s)
• Alpha-L-Iduronidase Activity is < 1% for All Forms of MPS1
• Mutation in the Alpha L Iduronidase Gene
• Thickened Coronary Arteries
• Thickened Mainstem Bronchi
• Vocal Cords Enlarged
• Excretion of Dermatan Sulfate and Heparan Sulfate in Urine
• Premature Closure of the Metopic Suture
• Short Thick Irregular Clavicles
• Developmental Delay Evident by 12-24 Months of Age
• High Incidence among Old Order Amish
• Dramatic Improvement with Proper Treatment
• Gradually Development of Tolerance to Carbohydrates
• May Be Lethal if Untreated
• Diarrhea Persists Even with Vigorous Nursing
• Caused by Mutation in the Dysferlin Gene
• Biopsy Shows Myopathy without Vacuoles
• Abnormally-Shaped Posterior Part of Sperm Head
• Spermatozoa with Coiled Tails
• Flagellar Defects
• Mutation in the CAV1 Gene
• Mutation in the GRHL3 Gene
• Uvular Anomaly
• Mutation in the CARD11 Gene
• Normal Titers to T Cell Dependent Vaccines
• Defective Antibody Production against Polysaccharide Based Vaccines
• Bone Marrow Shows Lymphoid Hyperplasia
• Mild Distal Muscle Atrophy
• Distal Touch Sense Decreased
• Distal Proprioception Decreased
• Multiple Papules - 1-2 mm, Skin-Colored and Hyperpigmented
• Multiple Papules (Milium-Like, Comedo-Like)
• Distal Limb Atrophy - Upper and Lower
• Cerebral Artery Amyloidosis
• Described in Individuals of Roma Gypsy Origin
• Proximal Lower Limb Muscle Weakness Later
• Nerve Conduction Velocities Reduced (Demyelinating Range)
• Respiratory Failure due to Neuropathy
• Possibly Arthrogryposis Multiplex Congenita
• Mutation in the ANGPTL3 Gene
• Marked Hypobetalipoproteinemia
• HDL Cholesterol Low to Very Low
• Mutation in the NDE1 Gene
• Atrophic Optic Fundi
• Severe Progressive Microcephaly
• Supratentorial Structures Unformed or Regressed
• Poor Delineation of Cerebral Cortical Regions
• Mutation in the CDK5RAP2 Gene
• Infrequent Tonic Clonic Seizures
• Partial Absence of the Corpus Callosum
• Small Frontal Lobes
• Simplified Gyral Pattern
• Early Respiratory Failure
• Localized Cutaneous Necrobiosis Lipoidica
• Fatty Replacement in Muscles (Hip and Proximal Lower Limb)
• Males More Severely Affected
• Sudden Cardiac Death Frequent in Affected Families
• Mutation in the Transmembrane Protein 43 Gene
• Severe Right Ventricular Atrophy with Fibrofatty Replacement
• Fractional Shortening <25%
• Right Ventricular Dilation
• Global or Focal Dyskinesia
• QRS Greater than 110 ms