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Teeth Defects Absence of Jaw Rotation during Chewing Weak Bite Unilateral Tongue Paresis Tongue Movement Limited Asymmetric Tongue Tongue Hypoplasia (77%) High-Arched Palate (61%) Flattened Nasal Bridge Epicanthal Folds (89%) Congenital Fibrosis of the Extraocular Muscles (9%) Duane Retraction Syndrome (34%) Conjugated Horizontal Gaze Palsy Adduction Palsy Usually Bilateral Abduction Palsy - Usually Bilateral External Ear Defects (47%) Lower Facial Muscles Possibly Spared Facial Paresis - Usually Bilateral Poorly Developed Scrotum Peripheral Neuropathy Has Been Reported in Rare Cases Loss of Sensation in the Trigeminal Nerve Region of the Face (11%) MRI Shows Congenital Abnormalities of the Posterior Fossa MRI Shows Absence of the Facial Nerve Axial Imbalance (34%) Poor Coordination (83%) Clumsiness (82%) Other Cranial Nerves May Be Involved Failure of Premolars and Molars to Meet at Occlusal Plane Lower Facial Height Reduced Simplified Helices High, Broad Forehead Height >90th Percentile Aneuploidy in Offspring Increased Tendency to Chromosomal Non-Disjunction Chromosomal Mosaicism in Cultured Cells Hands Clenched at Birth but Loosen in Infancy Downturning Toes Flexion of Fingers When Hand Dorsiflexed - Pseudocamptodactyly Short Gastrocnemius Coronoid Process Enlarged Short Stature - 3rd - 25th Percentile Wasting of Hands Often Occurs First Motor Nerve Conduction Velocity Normal Intact Sensation See Also HMN2B Rapid Disease Progression Mean Age of Onset 21 Years Caused by Mutation in the Heat Shock, 22 kD, Protein 8 Gene No Sensory Deficit Hyporeflexia in the Lower Limbs Paresis of Extensor Muscles of the Big Toe Is Presenting Symptom Onset Usually in Early Childhood (Range. Birth to Adulthood) Long Finger Flexion Contractures of the Last Four Fingers Mild Muscle Atrophy (Proximal > Distal) Extensor Muscle Weakness More Severe than Flexor Muscle Weakness Proximal Muscle Weakness More Severe than Distal Muscle Weakness Decreased Fetal Movements May Occur Variable Clinical Phenotype CK-MB Increased Muscle Symptoms Precede Cardiac Symptoms Onset before Age 20 Years Atrioventricular Conduction Disturbances Muscle Biopsy Shows Mild Dystrophic Changes Distinct from Myasthenia Gravis Favorable Response to Immunotherapy Variable Response to Acetylcholinesterase Inhibitors Acetylcholine Receptor Autoantibodies in a Subset of Patients Shortened Duration of Motor Unit Potentials Upper and Lower Limb Involvement Symptoms Are Often Responsive to Alcohol Jerking Movements of Face and Limbs Non-Specific Myopathy without Rimmed Vacuoles (Biopsy) Atrophy of Neck Muscles May Occur Later Weakness of Neck Muscles Possibly Later Weakness of Long Finger Extensor Muscles (Occurs Later) 'Hanging' Big Toe Atrophy of Anterior Compartment Tibial Muscles Weakness of Anterior Compartment Tibial Muscles Some Patients May Be Asymptomatic Muscle Cramps at Rest Difficulties with Night Vision See Also Autosomal Recessive Form Which Is More Common and More Severe Onset in Childhood - Adolescence No Muscle Weakness Absence of Myotonia in Infancy EMG: Myotonic Discharges Recurrent Intestinal Pseudoobstruction Uncoordinated Uterine Contractions Passive Aggressive Traits Obsessive-Compulsive Traits Speech Disability Mild Cognitive Deterioration in Adults Centrofacial or Mucosal Lentigines Eyelid Myxoma Conjunctival and Scleral Pigmentation Congenital Malalignment of Great Toenails Multiple Small Punctate Keratoses - Palms and Soles Absent Fingerprints Yellow Discoloration Elongated Radius with Hypoplasia of Radial Head