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Episodic Dyskinesia Clinical Course Age-Related Female Predominance 4:1 Diurnal Fluctuation More Apparent in Earlier Years Favorable Response to L-Dopa without Side Effects GTP Cyclohydrolase I Activity Decreased to about 20% Asymmetry of Symptoms Action Dystonia Treatment with Levodopa Is Not Effective Rarely Childhood Onset Onset Usually in Late Adolescence or Early Adulthood Facial Dystonia Cerebrospinal Fluid May Show Decreased Levels of Homovanillic Acid Brain MRI or CT Scan Normal Symptoms Stabilize Within 4 Weeks Slow Gait Rapid Initial Onset of Symptoms PHEP - Posterior Helical Ear Pits Earlobe Creases Hyperthermia in Early Childhood Number of Sweat Pores Decreased Absent Lateral One Third of Eyebrow Atretic Ear Canals Allelic Disorder to Autosomal Recessive Ectodermal Dysplasia Type 10B Mutation in the Ectodysplasin Anhidrotic Receptor Gene Fine, Slow-Growing Hair Onychodysplasia Smooth Thin Dry Skin Complete Penetrance with Variable Expressivity Cysteine and Disulfide Bonds in Hair Decreased Disorganized Structure of Hair Tensile Strength of Hair Reduced Focal Alopecia to Complete Baldness Total Alopecia in Females Fine Brittle Slow Growing Hair Thick Discolored Nails Severe Onychodystrophy Thick, Dyskeratotic Soles Clubbed Digits Thick, Dyskeratotic Palms Body Alopecia Rounded Nails Duplication of the 1st Metatarsal Thickened Frenulum Mild Hyperkeratosis Mild Malar Hypoplasia Small, Irregularly Placed Teeth Spontaneous Rupture of Bowel Premature Birth after Premature Rupture of Fetal Membranes Similar Clinical Features to Ehlers-Danlos Syndrom Classic Type 1 but Less Severe Subcutaneous Spheroids Cigarette Paper Scars Joint Laxity Decreases with Age No Scarring Sacral Striae Death Usually before 5th Decade Skin Changes Worse in Areas of Lower Skin Temperature Absent-Mild Skin Hyperextensibility Prominent Venous Markings Atrophic Skin Over Ears Type 3 Collagen Defect Uterine Rupture during Pregnancy Thin, Velvety Skin Severe Joint Laxity Palmoplantar Cutis Gyrata Loose Elastic Skin Galactosyltransferase I Deficiency in Fibroblasts Long Slender Toes Broad, Flat Forehead Pretibial Pigmented Granulomatous Plaques Poor Wound Healing Marked Bruisability Early Tooth Loss - Third Decade Most Cases Are Isolated Posterior Helical Indentations Linear Ear Lobe Creases Metopic Ridge Hyperplasia of Pancreas Omphalocele - Exomphalos Generalized Overgrowth Average Birth Weight: 4 kg Growth Parallels Curve at or above 95% Average Birth Length 52.6 cm Mutation in the NSD1 Gene Renal Medullary Dysplasia Pituitary Amphophil Hyperplasia Widening of the Spinal Canal Dural Ectasia Multiple Lateral Meningoceles Atrophic Muscle Fiber on Biopsy Erlenmeyer Flask Deformity Narrowing of Medullary Canal Thickened Cortices Progressive Diaphyseal Widening Sclerosis of Posterior Part of Vertebrae Mandible Involvement Mutations in the Plectin 1 Gene Onychogryphosis of Large Toenails Abnormal Hemidesmosome Intracellular Attachment Plates Impaired Keratin Filament Insertion into Hemidesmosomes