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Mutations in the Interleukin 2 Receptor Gamma Chain Gene Number of CD8+ T Cells Decreased Normal Number of Natural Killer Cells Paucity of Lymphoid Tissue Arthralgia in Middle-Aged Carrier Females Mild Epiphyseal Irregularities Hypoplasia of Capital Femoral Epiphyses Osteoarthritis - Back Hip Knee Final Adult Height: 131-156 cm Broad Thorax Lingual Pits (Maxillary Anterior Teeth) Mutation in the WAS Gene Transient Eczema Mean Platelet Volume Decreased Intermittent Thrombocytopenia Women May Be Mildly Affected Symptoms Begin Focally, Later Segmental or Generalized Described Mainly in Families from the Philippines Onset in Fourth Decade Spasmodic Eye Blinking Levodopa Responsive Parkinsonism Chorea Ballism Focal Tremor Short Webbed Neck Duane Syndrome Sensorineural, Conductive, or Mixed Hearing Loss Bilateral Striatal Lucencies on Imaging Bulbar Dysfunction Variable Age at Onset (Birth to Adulthood) Mitochondria with Paracrystalline Inclusions Abnormal Mitochondria with Disorganized and Vacuolated Cristae Muscle Shows Lipid Accumulation Activity of Complex I and Complex IV Decreased Weakness of Orbicularis Oculi Muscles Lesions In The Caudate and Putamen Mean Age at Resolution of Symptoms Is 10 Years Mean Age at Onset 5 Years Cardiomyopathy (CVS+) Exercise Intolerance (CVS+) Strabismus (CVS+) Gastrointestinal Dysmotility Pervasive Developmental Disorder (CVS+) Attention Deficit Hyperactivity Disorder (CVS+) Interictal Periods of Normal Health Rapid Complete Resolution of Symptoms Peak Frequency of Vomiting: Every 10 to 15 Minutes Usually during the Night or Early Morning Rapid Onset Some Pedigrees Are Consistent with Autosomal Dominant Inheritance Single Mitochondrial DNA Deletions in Sporadic KSS Patients Onset at Age <20 Serum and Muscle Coenzyme Q Decreased Cerebrospinal Fluid Folic Acid Decreased Diffuse Signal Abnormality of Central White Matter Onset at 1-70 Years of Age Mutation in the MTAP6 Gene Mutation in the Cytochrome C Oxidase III Gene Mutation in the MTCO1 Gene Mutation in the Complex I Subunit ND5 Gene Mutation in the MTND4L Gene Mutation in the MTND4 Gene Caused by Mutation in the Complex I Subunit ND1 Gene Nonspecific Myopathy Optic Atrophy - Chronic Phase Swelling of Retinal Nerve Fiber Layer in Acute Phase Circumpapillary Telangiectatic Microangiopathy Central Retinal Vessel Vascular Tortuosity Centrocecal Scotoma Spastic Dystonia Multiple Sclerosis-Like Illness Caused by Mutations in the Mitochondrial ATP Synthase 6 Gene Muscle Mitochondria Normal by Histochemical Analysis No Histochemical Evidence of Mitochondrial Myopathy Sluggish Pupils Early Salt and Pepper Retinopathy Death within 12 Months Rapid Progression Mutation in the Prion Protein Gene Brainstem May Show Neuronal Loss Thalamic Neuronal Loss especially in the Medial Dorsal Nucleus Dream Enactment Progressive Sleep Impairment Refractory Insomnia Good Response to Vitamin D Treatment 1,25-Dihydroxyvitamin D3 Normal Calcium Low to Normal Enlargement of Ankles Enlargement of the Wrists Metaphyseal Fraying Deformed Rib Cage Enlargement and Bulging of the Costochondral Junction High Frequency of Levodopa-Induced Dyskinesias Symptoms Improve Following Sleep Caused by Mutations in the Parkin Gene (PARK2) No Lewy Bodies Neuronal Loss in the Locus Ceruleus Neuronal Loss and Gliosis in the Substantia Nigra Pars Compacta No Dementia Diurnal Fluctuations of Symptoms Possibly Hyperreflexia