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Cysts Occur Less Commonly on Any Part of the Body Where Hair Grows Cyst Occur Most Often on the Scalp Superior Pectus Carinatum Abnormality of the Odontoid Process Sagittal Cleft of Vertebral Body of L5 L5-S1 Fusion Onset 13-15 Years Osteolysis of Scaphoids Osteolysis of Patellae (Bone Loss of Posterior Patella) Onset at Age 32-45 Years Atrophy of Intrinsic Foot Muscles Atrophy of Intrinsic Hand Muscles Mild Contractures of the Hands EMG Shows Myopathic Changes Muscle Biopsy Shows Rimmed Vacuoles Muscle Biopsy Shows Dystrophic Changes MRI Shows Fatty Infiltration of Affected Muscles Proximal Muscle Weakness (Late Symptom) Asymmetric Muscle Involvement Neurologic Features Occur in Adulthood Foot Deformities Are Present in Infancy or Childhood Occasionally Onion Bulb Formations (Sural Nerve Biopsy) Giant Axonal Swelling with Neurofilament Accumulation EMG Shows Chronic Denervation Distal Sensory Loss of Tactile and Vibratory Senses Distal Limb Muscle Atrophy due to Peripheral Neuropathy Onset at Birth or in Early Childhood Mutation in the Cathepsin D Gene Decrease or Absence of CTSD Protein Cathepsin D in Immunostaining Premature Closure of Fontanels Overriding Sutures Myelin-like Lamellar Structures in Schwann Cells Granular Osmiophilic Cytoplasmic Deposits in Schwann Cells Autofluorescent Lipopigment in Neurons White Matter Lacks Axons and Myelin Glial Activation Neuronal Loss in the Cerebrum and Cerebellum MRI Shows Cerebral Atrophy Loss of Motor Functions Some Patients May Show Normal Early Development Thin or Notched Neuroretinal Rim Optic Disc Hemorrhage CDR ≥ 0.7 Bilateral Intraocular Pressures Greater than or Equal to 22 mmHg Anterior Chamber Angle Open with Grade III-IV Gonioscopy Onset at Age 12-35 Years Frequency among Jewish Iranian Individuals from Isfahan Increased Adults May Be Asymptomatic Symptoms Ameliorate with Age Possibly Acute Life-Threatening Crises in Infants Ratio 18-OHB to Aldosterone Increased 18-Hydroxycorticosterone Increased Smaller Repeat Lengths in Younger Generations No Congenital Form Frontal Balding, Male Pattern Baldness Decreased Serum IgG and IgM Type-2-Muscle Fiber Atrophy Nuclear Clumps Angulated Atrophic Muscle Fibers Deep Finger Muscle Weakness Iridescent Posterior Subcapsular Cataract No Mental Retardation Follicle Stimulating Hormone Elevated Clinical Heterogeneity of Multiminicore Disease Non-Progressive or Slowly Progressive Caused by Mutations in the Selenoprotein N-1 Gene Nasal, High-Pitched Voice Mallory-Like Bodies Plaques Immunoreactive for Desmin and Alpha-B-Crystallin Amorphous Granulofilamentous Material Associated with Z-Discs Hyaline Plaques with Absent Oxidative Activity Myofibrillar Lesions Neck Flexion Limited Flat Thorax Short Limbs Become More Apparent during Childhood Disproportionately Short Limbs - Often Noted at Birth Loose, Redundant Skin on Fingers Short, Broad Phalanges Broad Middle and Proximal Phalanges Short Broad Phalanges - Progressive Shortening in First Year Broad Short Fingers Progressive Shortening of Ulna in First Year of Life Progressive Shortening of Radius in First Year Progressive Shortening of Humerus in First Year of Life Bowed Forearms Thoracolumbar Interpediculate Narrowness Anterior Beaking Oval Vertebral Bodies in Infancy Small to Normal Birth Length Final Adult Height 38-49 Inches Superiorly Curved Clavicles Enlarged Knee Joints Symptoms Progress with Worsening Myopathy Phenotypic Variation in Severity and Symptoms Later Childhood Onset Has Been Reported Onset Usually in Infancy Muscle Biopsy Shows Endplate Myopathy Slow, Delayed Pupillary Light Reflex Abnormal Encasement of Presynaptic Membrane by Schwann Cells Focal Degeneration of Postsynaptic Junctional Folds (Muscle Biopsy)