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Diminished Social Interaction Lewy Bodies in the Substantia Nigra Axonal Swellings or Spheroids Rarely Onset at Age >30 Years Most Have Onset in First or Second Decade Bimodal Age of Onset Mostly Pure Spastic Paraplegia - sometimes Complicated Spastic Paraplegia Muscle Wasting Due to Chronic Denervation Peripheral Retinal Pigmentation Granular Fundus Severe Epiphora Progressive Loss of Color Vision Allelic to Retinitis Pigmentosa 35 Neurologic Involvement Not in All Cases Mutation in the HAX1 Gene Increased Risk of Myelodysplastic Syndrome Recurrent Serous Otitis Centrally Located Liver Caused by Mutation in the Thioredoxin Domain-Containing 3 Gene Centrally Located Heart Brochiectasis due to Poor Ciliary Clearance Respiratory Cilia Have Shortened or Absent Outer Dynein Arms Recurrent Respiratory Infections due to Ciliary Dysfunction Recurrent Infections due to Ciliary Dysfunction Death due to Respiratory Failure or Infection Rare Spontaneous Improvement Occurs Associated with Smoking Usually Adult Onset Acquired Autoimmune Disorder Pulmonary Function Tests Show Restrictive Ventilatory Defect Radiology Suggestive of Pneumonia Inspiratory Crackles (50%) Accumulation of Surfactant Protein Cyanosis (25%) Digital Clubbing due to Chronic Hypoxia Opportunistic Infections Include Nocardia Asteroides - Mycobacterium Avium Complex Secondary Respiratory Infections Defective Neutrophil Function Defective Macrophage Function Favorable Response to Hydroxychloroquine Treatment Some Patients May Live to Adulthood Viral Respiratory Infection May Trigger Respiratory Distress Occurs in Full-Term Newborns Highly Variable Pathologic Phenotype Intraalveolar Accumulation of Abnormal Pro-SPC Protein Decreased or Absent Mature Surfactant C Protein Hazy, Ground Glass Interstitial Opacifications (X-Rays) Areas of Fibrosis May Develop with Longer Disease Duration Nonspecific Cellular Interstitial Pneumonitis Most Affected Infants Die in the First Month of Life Occurs in Full Term Infants Mutation in the ABCA3 Gene Surfactant Deficiency Interstitial Thickening Type 2 Pneumocytes Contain Abnormal Lamellar Bodies Type 2 Pneumocyte Hyperplasia Respiratory Distress Severe Neonatal Possibly Intracellular Accumulation of Material Possibly Normal Development until Onset of Disorder Rapid Cognitive Decline Male-to-Female Ratio = 1.8:1 Asymptomatic Carriers of inv(8)(p11.2q22) Deep Plantar Furrows Misshapen Ears Wide Face Radiographic Studies Show a Single Ossification Center in the Sternum Progressive Pectus Excavatum Dilated Collecting Tubules Genitourinary Anomalies Polysaccharide Antibody Response Defect Some Patients May Have Isolated Cardiac Involvement High Frequency of De Novo Mutations Allelic Disorder to Early Onset Sarcoidosis Variable Manifestation of Features Onset in First 2 Decades of Life Mutation in the NOD2 Gene Cysts Over Wrist and Ankle Joints Skin Biopsy Shows Noncaseating Granulomas Granulomatous Synovitis Caused by Mutation in the Hamartin Gene (TSC1) Mild Upper Limb Spasticity Pontine Dysraphia May Be Triggered by Increased Practice May Be Progressive Focal Dystonia - Upper Limb Onset at Age 9-16 Years Generalized Polyspike-and-Slow-Wave Discharges (4-5 Hz) Noonan-Like Facies in a Minority of Patients Some Patients Do Not Have Dysmorphic Features Phenotypic Overlap with Neurofibromatosis Type 1 No Neurofibromas Irregularly Placed Dentition Delayed Eruption of Deciduous Tooth Absence of the Olfactory Bulbs Bright Blue Eyes Absence of the Cochlear Nerves Caused by Mutation in the Sry Box 10 Gene (SOX10 602229-0005) Dilatation of the Vestibule Vestibular Malformation Hypoplasia or Agenesis of the Semicircular Canals