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'Onion Bulb' Formation on Nerve Biopsy Sensorineural Hearing Loss May Be Presenting Feature Upper Limb Involvement Occurs Later Caused by Mutations in the Myelin Protein Zero Gene Slow Pupillary Reaction with Slow Light Convergence Reflex Secondary Demyelination Occurs Later in Disease Motor Nerve Conduction Velocities Normal to Mildly Decreased Seizures Are Easily Controlled by Medications Normal Interictal EEG Seizures Often Begin with Head and Eye Deviation Seizures Occur in Clusters Possibly Secondary Generalization Mutation in the Indian Hedgehog Protein Gene Cone Shaped Epiphyses (ankles) Short Hands Short Middle and Distal Phalanges Enlargement of the Distal Femoral Epiphysis Varus Deformity (Humeral Head) Cone Shaped Epiphyses - Proximal and Distal Tibia Short Flared Iliac Wings Egg-Shaped Femoral Head Anterior Notching of Vertebral Bodies Segmental Demyelination or Remyelination Allelic Disorder to Rippling Muscle Disease Mutations in the Caveolin 3 Gene Muscle Biopsy Shows Decreased Caveolin-3 Expression Hypertrophy of Calf Muscles Possibly 'Visual Variant' Onset in Late Twenties to Thirties Loss of Executive Functions Loss of Attention Cortical and Subcortical Regions Involved Optic Ataxia Visuospatial Agnosia Constructional Apraxia Mutation in the SRY-Box 18 Gene Normal Scalp Hair at Birth Then Progressive Hair Loss Lower Limb Lymphedema Thin Transparent Skin - Hands and Feet Congenital Eyelid Edema Eyelashes Absent Allelic Disorder to CMT4A Upper Limb Involvement in First Decade Onset in Feet and Legs Onset before Age 3 Years Loss of Myelinated Fibers on Nerve Biopsy Partial Laminin Alpha-2 Deficiency Results in Milder Phenotype Ambulation Usually Not Achieved Increased Endomysial Connective Tissue around Muscle Fibers Absence of Laminin Alpha 2 Chain in Muscle Absence of Merosin in Muscle Most Common Terminal Deletion Syndrome Deletion of 1p36 Anticonvulsants Are Effective Movement or Postural Maintenance Elicit Tremor Non-Progressive Recurrent Respiratory Infection Normal Hair Shaft Morphology Hypopigmented Skin Patches on Arms (Vitiligo) Hyperpigmented Skin Patch IgG Normal to Increased Specific Antibodies Decreased T Cell Response to Mitogens Decreased Combined Humoral and Cellular Immunodeficiency Considered to Be a Severe Form of Gaucher Disease Type 2 Most Severe Form of Gaucher Disease In the Absence of Hydrops, Death within 3 Months Desquamation of Skin Soon after Birth Shiny Taut Erythematous Skin Collodion Skin Gaucher Cells in Spleen, Liver, Lymph Nodes, Bone Marrow, CNS Glucocerebrosidase Protein and Activity Decreased Spontaneous Movements at Birth Decreased Absent in Utero Ossification of Pedicles Absent Ossification of Vertebral Bodies in Utero Intralobular Nephrogenic Rests Small Cerebellum - Especially Vermis Congenital Absence of Distal Phalanges Proximal and Distal Symphalangism Multiple Hyperplastic Frenula Prominent Broad Nasal Bridge Cerebellar Atrophy - Especially of the Vermis Spasticity May Occur Onset of Sensory Neuropathy in Later Adulthood Onset of Cough in Early Adulthood Sensory Loss More Severe for Pain and Temperature Abnormal Jerky Eye Movements Dysgenesis or Agenesis of the Cerebellar Vermis No Hippocampal Sclerosis EEG and Symptomatology Suggest Mesial Temporal Origin Interictal EEG May be Normal or Abnormal Status Epilepticus Rarely Occurs Caused by Mutation in the Alpha-Sarcoglycan Gene Immunostaining for Alpha-Sarcoglycan Decreased Loss of Reflexes due to Myopathy Seizures and Dystonia Peak during Childhood Prolonged Somatosensory Evoked Potentials Rolandic Sharp-Waves and Spikes Generalized Seizures May Occur Partial Seizures - Often Hemifacial