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EMG Shows Neurogenic Abnormalities Late Diaphragmatic Involvement Secondary Involvement of Proximal and Trunk Muscles Primarily Affects Distal Lower Limbs Early and Severe Foot Extensor Muscle Involvement Partial Thromboplastin Time Prolonged Rough Endoplasmic Reticulum Dilated Abnormal Columnization of Chondrocytes Slanting Acetabular Roofs Severely Disproportionate Short Stature Psychiatric Symptoms May Be the Presenting Sign Median Age at Onset 23 Years TBP and 1C2-Immunoreactive Neuronal Inclusions Axial Rigidity Age of Onset: 36-55 Years (Mean Is 47 Years) Clonus of Ankle or Knee Most Common Mutation Is Leu276Ile Alpha Dystroglycan Expression Variably Decreased Mildly Decreased Laminin Alpha 2 Expression Muscle MRI Shows Fatty Infiltration Often Refractory to Medical Therapy May Be Induced by Fever or Hot Bath Psychomotor Delay after Second Year Generalized Clonic or Tonic-Clonic Seizures Allelic Disorder to Juvenile Primary Lateral Sclerosis Allelic to Amyotrophic Lateral Sclerosis Type 2 Most Patients Become Wheelchair-Bound Some Patients Never Achieve Walking or Running Onset Within first 2 Years of Life Caused by Mutation in the Alsin Gene (ALS2) Ocular Gaze Palsies (Onset in Second Decade) Normal Cognition and Intellectual Function Early Involvement of the Corticospinal Pathways Spastic Tetraplegia (Onset in Second Decade) Iron Deposition in Pallidal Nuclei Complicated and Pure Forms Caused by Mutation in the Caspase 8 Gene Cellular Caspase-8 Decreased Defective Natural Killer Cell (NK) Activation Defective B-Cell Activation No Response to Pneumococcal Vaccination Mucocutaneous Herpes Simplex Infection Recurrent Sinopulmonary Infections Onset of Scoliosis at Age 2 Years Onset of Gaze Palsy at Birth Severe Progressive Thoracolumbar Scoliosis Heterozygous Mutation in 5-7% of the Japanese Population ApoA-II Levels in Homozygotes Normal ApoA-I in Homozygotes Elevated HDL in Heterozygotes Mildly Elevated HDL Elevated in Homozygotes Gastrointestinal Anomalies Are Not Always Present Renal Anomalies Are Not Always Present Duane Anomaly Is not Always Present Mutation in the SALL4 Gene Hypoplastic Pectoral Muscle Thenar Hypoplasia Aplasia of Metacarpal Bones Highly Variable Radial Ray Abnormalities Optic Disc Dysplasia Convergence Impaired Palpebral Fissure Narrowing on Adduction Ocular Adduction Impaired Duane Anomaly Slit-Like Openings of the Exterior Auditory Meatus Gastrointestinal Anomalies Abnormally Placed Kidney Mutations in the FLJ90140 Gene Femoral Head Ossification Delayed Thick Femoral Neck Short Ischia Lacy Iliac Crest Disproportionate Short Stature - Short Trunk Small Scapula Short Barrel-Shaped Chest 3-Beta-Hydroxysteroid-Delta-5-Desaturase Decreased 7-Dehydrocholesterol Absent Lathosterol Elevated Thick Vermilion Border of Upper Lip Adult Onset Has Been Reported Surgical Intervention Is Not Always Curative Type IIA: Usually Earlier Onset, More Severe Phenotype Onset Usually in Infancy or Early Childhood Mutations in the Hamartin Gene Blurring of the Gray White Junction Focal Thickening of the Cortex in Type IIB Focal White Matter Lesions (in Type 2B) Diffuse Fibrillar Astrocytosis in Type 2B Balloon Cells Multifocal Areas of Laminar Dysmorphic Neurons in Type 2a Absence of Balloon Cells (in Type 2a) Mental Retardation in Type 2A MRI May Be Normal Especially in Type 2b Disorganized Cortical Architecture Focal Neurologic Deficits (i.e. Hemiparesis) Seizures Occur Multiple Times Per Day Severe Drug-Resistant Intractable Seizures Slowly Progressive Cerebellar Ataxia Clinical Variation Mutation in the CLCNB Gene