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Overgrowth of Alveolar Ridge Hypoplastic Nasal Bridge Proximally Placed Thumb Ulnar Hypoplasia or Aplasia Long, Narrow Face Other Designations: Distal Hereditary Motor Neuropathy (DHMN), Distal Spinal Muscular Atrophy (DSMA) Childhood or Adolescent Onset Caused by Mutation in the Senataxin Gene Pes Cavus Reported No Bulbar Involvement Corticospinal Tracts with Decreased Myelin Staining Clonus May Occur Lower Motor Neuron Disease Proximal Weakness Occurs Later Weakness of Muscles of Distal Limbs Mode of Inheritance is Uncertain Most Cases Are Sporadic Generally Benign Disorder More Common in Males Average Age at Onset 18 Years Possibly Cervical Spinal Cord Atrophy (MRI) Minipolymyoclonus EMG Shows Fibrillations Neurogenic Changes Consistent with Denervation (EMG) EMG Shows Fasciculations A Subset of Patients Develop Bilateral Weakness Usually a Unilateral Disorder Progressive for a Few Years, then Stationary Sparing of the Brachioradialis Muscle Amyotrophy Affects C5 to T1 Myotomes Dorsal and Flexor Muscles of the Forearm Are Involved Interosseus Muscles Involved Muscle Atrophy Restricted to the Upper Limb Muscle Weakness Restricted to the Upper Limb Caused by Mutation in the DNA Ligase 4 Gene Caused by Mutation in the Artemis Gene No Thymus Reduced or Absent CD3+ T Cells Bilateral Humeral Hypoplasia Synostosis of Shoulder Joint Patients Are Often of Mediterranean Origin Mutation in the ETHE1 Gene Orthostatic Acrocyanosis C4 and C5 Acylcarnitine Esters Increased Methylsuccinic Aciduria Ethylmalonic Aciduria Retinal Lesions with Tortuous Vessels Pyramidal Symptoms High Incidence of Diabetes Mellitus Noted in OPLL Patients Four Types of OPLL - Segmental Continuous Mixed Other Common in Japan and Asian Populations Ectopic Ossification of Posterior Longitudinal Spinal Ligament Reduced Penetrance (Approximately 87%) Neurologic Signs Last Hours to Days Headaches Last Hours to Days Frequency and Duration of Episodes Highly Variable Onset at Age 6-30 Years Cerebellar Ataxia during Episodes Cerebellar Signs during Episodes Ictal EEG Shows Diffuse Slow Delta and Theta Activity Diffuse Brain Swelling Occurs during Coma Hemihypoasthesia Variable Phenotype within Families Temporomandibular Joint Abnormalities Small Mandibular Coronoid Processes Asymmetric Mandible Mandibular Agenesis Articulation Difficulties Mastication Difficulties Abnormal Palate (63%) Glossoptosis Microstomia (52%) Ear Constriction (97%) Stenotic Ear Canals Pre and Post Auricular Skin or Cartilaginous Tags Overfolded Superior Helix Cupped Pinna Lobule May Be Separate from the Rest of the External Ear Cleft at the Junction of Lobule and Helix Auricular Clefts Prominent Cheeks Nonketotic Hypoglycemia Insulin Dependent Late Onset Diabetes Mellitus Mutation in the Barttin Gene Urine Prostaglandin E Tubulointerstitial Fibrosis (Renal Biopsy) Ultrasound Shows Hyperechoic Kidneys Inability to Concentrate Urine Stimulation of the Renin-Angiotensin-Aldosterone Axis Rudimentary Epiglottis Narrowed Distal Phalanges Bullet-Shaped Middle Phalanges Proximal and Middle Phalanges Long Cranium Skeletal Maturation Accelerated Underweight for Length Thick Clavicles Mild Involvement of Face and Arms Severe Involvement of Legs Delayed Epiphyseal Maturation