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Progressive Ptosis Mean Age at Onset 32 Years Caused by Mutations in the Ataxin 7 Gene (SCA7) Decreased Mobility 3rd - 5th Fingers Ulnar-Deviated Club Hands Absent Radial Heads Aplasia of Lateral Humeral Condyle Absent Coronoid Process Shallow Glenoid Fossa Nerve Conduction Velocities Normal or Mildly Decreased See Also Optic Atrophy with Deafness - an Allelic Disorder Bimodal Onset in Early Childhood Caused by Mutation in the OPA1 Gene Pattern Visual Evoked Potentials Show Reduced Amplitude Fractures Often Heal without Deformity Fracture Frequency Constant through Childhood, Decreases after Puberty Onset of Fracture Usually when Child Begins to Walk Mild Joint Hypermobility Occasional Femoral Bowing Height Often Shorter than Unaffected Family Members Normal to near Normal Stature Detection in Second Trimester of Pregnancy (Ultrasound) Gonadal and Somatic Mosaicism Reported in Parent Rarely Survival for Longer than One Year Perinatal Lethal Telescoped Femur Broad Crumpled Long Bones Flattened Acetabulae and Iliac Wings Frog Leg Position: Flexion and Abduction of Hips Absent Calvarial Mineralization Often Identified in Neonatal Period Femoral Bowing Present at Birth - Straightening with time Biconcave, Flattened Vertebrae Mild-Moderate Skeletal Deformity Normal Greyish Sclerae Short Stature (Often <5th Percentile) Diaphyseal Bowing (Radius, Ulna, Tibia, Fibula) Cemento Osseous Lesions (Maxilla and Mandible) Sclerotic Mastoids (31%) Sclerotic Cranial Base Increased Trabecular Thickness Seen on Iliac Bone Biopsy Broad Medial and Lateral Clavicles Long Straight Clavicles Transitional Facial Palsy 20-40% of Patients Are Asymptomatic Caused by Mutation in the Chloride Channel 7 Gene Endobones Pronounced Skull Base Sclerosis Facial Palsy due to Cranial Nerve VII Compression Ankylosis of Primary Molars Caused by Mutations in the Keratin 17 Gene Mutations in the Keratin 6B Gene Dry Sparse Scalp Hair Subungual Keratosis Folliculitis - Back, Axilla, Pubic Region No Oral Leukoplakia Mutation in the Valosin Containing Protein Gene Inclusion Body Myopathy Pelvic Girdle Weakness and Atrophy Limb Weakness and Atrophy Shoulder Weakness and Atrophy Frontal and Temporal Cortical Atrophy (MRI) Inability to Raise One or Both Eyes above Midline Eyes Fixed in Hypotrophic Eye Position Unilateral or Bilateral, Non-Progressive, Restrictive Ophthalmoplegia Ptosis (Unilateral, Bilateral or Absent) See Also Lethal Neonatal and Adult Forms Precipitated by Febrile Illness and Fasting Long Chain Acylcarnitine Increased Plasma and Tissue Total and Free Carnitine Reduced Palmitate Oxidation Decreased Decreased Levels of CPT2 Protein Carnitine Palmitoyltransferase II Activity Decreased Onset of Hearing Loss in Second Decade Epilepsy with Generalized Seizures on Awakening Benign Neonatal Familial Convulsions Comprises Several Subtypes Susceptibility Conferred by 9-SNP Haplotype in Malic Enzyme 2 3-4 Hz Spike and Multispike Generalized Bilateral Synchronous Symmetrical Discharge Generalized Recurrent Seizures Age at Onset of Mild Phenotype: 11-18 Months Severe Phenotype Onset Neonate Two Different Phenotypes Exist - Severe and Mild Urine 2-Ketoglutarate Elevated Urine L-2-Hydroxyglutaric Acid Increased Urine Plasma and Cerebrospinal Fluid D-2-Hydroxyglutaric Acid Elevated Enlarged Lateral Ventricles (Occipital > Frontal) Delayed Gyration Subependymal Cyst Neonatal or Early-Infantile-Onset Encephalopathy Distal Myopathy with Rimmed Vacuoles Severe Incapacitation in 10-20 Years Possible Proximal Muscle Weakness Later in the Disease See for General Information on Alzheimer Disease Accounts for <2% of Patients with Alzheimer's Disease Early Onset between 35-60 Years Mutation in the Presenilin 2 Gene Severe Amyloid Angiopathy Neurofibrillary Tangles and Neuritic Senile Plaques - Rare