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Onset in Childhood or Early Adolescence Brief Involuntary Movements of Upper Extremities Myokymia Especially Facial Deficit in Spelling Reading Comprehension Deficits Deficit in Basic Reading Deficit in Phonologic Short-Term Memory Deficit in Nonword Repetition No other Neurologic Deficits Onset of Neurologic Disease in Early Adulthood Vitamin E Levels Increased 'Hatchet' Face Lack of Facial Fat Spastic-Ataxic Gait Onset of Hypoglycemia Possibly Delayed Asymptomatic Hyperammonemia (2- to 5-fold Increase) Onset Age 14-28 Years Spared Cranial Muscles Involves Upper and Lower Proximal Muscles Anterior Tibial Muscles First Involved Creatine Kinase 20-70 Times Normal Cone-Shaped Epiphyses - Toes 2, 3 and 4 Favorable Response to a Ketogenic Diet Erythrocyte Glucose and Hexose Transport Reduced Cerbrospinal Fluid Lactate Low to Normal Hypoglycorrhachia (low Glucose in CSF) Abnormal Paroxysmal Eye Movements Paroxysmal Myoclonus Paroxysmal Total Body Paralysis Paroxysmal Hemiparesis Paroxysmal Lethargy Paroxysmal Confusion Infantile Seizures Phenobarbital Decreases Bilirubin Concentration Uncommon Disorder UDP Glucuronyl Transferase Activity Decreased or Absent Normal Serum Liver Enzymes Mean Age of Onset 56 Years Frequent Blinking Focal Dystonia Limited to Orbicularis Oculi Muscle Cutaneous Leiomyomata (Heterozygote Carriers) Fumarase Activity Is Decreased Pyruvic Acidemia Abnormal Oral Glucose Tolerance Mild Intermittent Glucosuria Severe Chronic Diarrhea Changes More Marked in Hands than Feet Brachytelomesophalangy Symptoms Occur only during Sleep Nocturnal Tongue Biting and Bleeding Nocturnal Faciomandibular Myoclonus Onset in 5th Decade Mild Distal Sensory Deficits Hyporeflexia or Areflexia Caused by Mutations in the CD40 Gene Lymph Nodes Lack Germinal Centers IgA, IgE, and IgG Severely Decreased IgM Normal or Increased Possible X-Linked Recessive Inheritance Widely Spaced Sutures Wide Webbed Neck Hypersegmented Sternum Polymicrogyria Most Severe in the Frontoparietal Regions Finger Dysmetria Premature Chromosome Condensation Small Upper Lip Aplastic or Hypoplastic Distal Phalanges of Toes 2-5 Aplastic or Hypoplastic Middle Phalanges Absent Pisiform Bone Trapezium Bone Absent Aplastic or Hypoplastic Distal Phalanges Aplastic or Hypoplastic Middle Phalanges - Fingers 2-5 Narrowed Zygomatic Arch Photosensitivity in One Third of Patients Urinary Incontinence (Continence Never Achieved) Hemispheric Atrophy Profound Congenital Hearing Loss Broad Adducted Forefoot No Symphalangism Premature Epiphyseal Fusion Short Proximal First Phalanx Short Distal Phalanges (Fingers 2 - 5) Brachymesophalangy Compensatory Chin Elevation Relatively Benign Course Onset 50 to 65 Years Parkinsonism with Favorable Response to Dopaminergic Medication Lewy Bodies Pigmentary Loss in the Substantia Nigra Gliosis in the Substantia Nigra Neuronal Loss in the Substantia Nigra Mutation in the Matrilin 3 Gene Small Irregular Epiphyses (First Metacarpal) Submetaphyseal Vertical Striations High Greater Trochanter Broad Short Femoral Neck Early-Onset Osteoarthritis Normal Stature Onset: Infancy to Young Adulthood Respiratory Vital Capacity Decreased