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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 Carnitine Palmitoyltransferase I Deficiency