37501 to 37600 most common queries

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

• Phenotypic Overlap with Denys Drash Syndrome
• Mutations in the WT1 Gene
• Majority of Patients Have Normal Intelligence
• Notched Alae Nasi
• Accessory Nasal Tag
• Broad Notched Nasal Tip
• Variable Bifid Nose
• Cranium Bifidum Occultum (Defect in Midline of Frontal Bone)
• Aplasia or Hypoplasia of Pectoral Muscle (Poland Syndrome)
• Wheelchair Use by 10-30 Years
• Prevalent in North Africa
• Onset 1-12 Years
• Mutation in the SGCG Gene
• Abnormal Precordial Tall R Waves
• Possibly Subclinical Cardiac Involvement
• Normal Dystrophin Immunostaining
• Absence of Gamma-Sarcoglycan Protein
• Patchy Muscle Fiber Degeneration
• Muscle Biopsy Shows Dystrophic Pattern
• Loss of Independent Ambulation around Age 12 Years
• Pyramidal Tract Hypoplasia
• Low Density White Matter on CT Scan
• Focal Interhemispheric Fusion
• Leptomeningeal Thickening
• Possibly Heterozygous Mutations and Dominant Negative Effect
• Creatine Kinase Normal to Mildly Increased
• Calcaneal Protrusion
• Laxity of Ankles Increased
• Hyperextensibility of Wrists
• Long Thin Limbs
• Proximal Joint Contractures
• Endo and Perimysial Connective Tissue Increased
• Absence of Collagen VI Immunostaining
• Muscle Biopsy Shows Merosin-Positive Muscle Fibers
• Some Patients Never Achieve Ambulation
• Ambulation Delayed
• Muscle Weakness - Proximal Greater than Distal
• Reflexes Due to Muscle Weakness Decreased or Absent
• High Frequency in Hutterite Population
• Small, Membrane-Bound Vacuoles Predominantly in Type 2 Fibers
• Atrophic Fibers
• Increased Echo Intensity in Affected Muscles
• Exercise-Induced Weakness
• 'Flat Smile'
• Allelic to Limb-Girdle Muscular Dystrophy Type 2B
• Age at Onset: 15-25 Years
• Caused by Mutation in the Dysferlin Gene (DYS 603009-0001)
• Fibrillations in Affected Muscles
• Dysferlin Staining Decreased or Absent (Muscle Biopsy)
• Muscle Biopsy May Show Inflammatory Changes
• Sparing of Small Hand and Finger Muscles
• Mild Muscle Atrophy In Forearm Muscles
• Muscle Weakness in Forearm Muscles
• Sparing of Anterior Tibialis Muscle
• Gastrocnemius and Soleus Muscles Most Affected
• Muscle Wasting in Lower Limbs
• Difficulty Rising from a Squatting Position
• Heel Standing Preserved
• Difficulty in Toe Walking
• Electron Microscopy Shows Decreased Size of Synaptic Vesicles
• Defect in Resynthesis and Packaging of Acetylcholine
• Quantal Content Declines with Activity
• Absence of Ophthalmoparesis
• Absence of Ptosis
• Increased Jitter Seen on Single Fiber EMG
• Majority of Individuals Are Healthy
• Mutations in the Myeloperoxidase Gene
• Myeloperoxidase Activity in Neutrophils and Monocytes Decreased
• Eosinophil Peroxidase Activity Normal
• Absence of Peroxidase Staining in Neutrophils and Monocytes
• Low Leukocyte Alkaline Phosphatase
• Rapidly Progressive Disorder
• Short Survival
• Onset in Late Childhood or Adolescence
• Disorganized EEG
• Focal to Bilateral Tonic-Clonic Seizure
• High Frequency in Finnish Population
• Onset at Age 6-13 Years
• Mild Mental Deterioration
• Action Myoclonus Triggered by Voluntary Movements
• Alpha-Abolished Continuous Spikes - Intense Myoclonus on Photic Stimulation
• Alpha Slowing - 4-6 Hz Spikes - Myoclonus on Photic Stimulation Stage 2
• Intermittent Wheelchair Dependence
• Minor Motor Impairment
• Stimulation Sensitive Generalized Myoclonus
• Stimulation-Sensitive Segmental Myoclonus (Stage 2)
• Polyspike on Photic Stimulation
• Visual Blackouts (Stage 1)
• See Also the Lethal Neonatal and Infantile Forms
• Heterozygous CPT2 Mutation Carriers Possibly Symptomatic
• Triggered by Exercise Fasting or other Metabolic Stresses
• Onset in Adolescence or Adulthood
• Mutations in the CPT2 Gene
• Plasma and Tissue Carnitine Normal
• Creatine Kinase Normal between Episodes
• Carnitine Palmitoyltransferase II Deficiency
• Precipitated by Infection, Fasting or Intercurrent Illness
• Onset at Age <30 Months
• Long Chain Fatty Acid Oxidation Decreased
• CPT1 Activity Decreased