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Internal Nuclei in Skeletal Muscle Fibers Increased Changes in Sarcoplasmic Reticulum and T-Tubules Cores Contain Densely Packed Myofilaments Most Common Form of Childhood Idiopathic Epilepsy Unilateral Centro-Temporal Spikes Earlier Onset Is Rare Late Adult-Onset Gaze-Evoked Horizontal Nystagmus Mild to Moderate Late Onset Sensorineural Hearing Loss Degeneration of Purkinje Cells in the Cerebellum Slightly Increased Risk for Malignancy Few Familial Cases Reported Mutation in the Nuclear Receptor Binding SET Domain Protein 1 Gene Sparse Hair in Frontoparietal Area Disharmonic Maturation of Phalanges and Carpal Bones Birth Length Often More Increased than Weight Mean Full Term Birth Weight: 3.9 kg Mean Female Adult Height 172.9 cm Mean Male Adult Height 184.3 cm Adult Height Often Normal Length ≥97th Percentile through Early Adolescence Mean Full Term Birth Length 55.2 cm Prominent Trigone and Occipital Horn Mental Retardation Likely due to Neonatal Hypoxia Majority Are Isolated Cases Abnormal Tracheal Cartilaginous Ring Calcaneal Epiphyseal Stippling Sacral Fusion Posterior Rib Gap Defects Rudimentary Ribs Fusion of Cervical Vertebrae Most Often C2-3 See CMT4A (214400) for Autosomal Recessive Demyelinating Forms Caused by Mutation in the Myelin Protein Zero Gene Mutation in the Kinesin Family Member 1B Gene Distal Sensory Impairment Cold-Induced Muscle Cramps May Regress in Adulthood Progresses Through Puberty Then Stabilizes Onset at Age 14 Months to 4 Years Mutation in the SH3BP2 Gene Multilocular Radiolucencies in the Jaw Bones Loss of Bone and Replacement by Fibrous Tissue Restricted to Jaw Agenesis of Teeth Macular Striae Upward Displacement of Ocular Globes Mandibular Enlargement Maxillary Enlargement Symmetric Hard Painless Swelling of the Jaw Region Broad Cheeks due to Facial Swelling Round Face due to Facial Swelling Long Nose with Bulbous Tip Anomalous Optic Disc Eccentric or Ectopic Pupils Prominent Zygomatic Arch Extrahepatic Duct Involvement Renal Mesangiolipidosis Onset in Third Decade Mutations in the ANKH Gene Pseudoosteoarthritis Polyarticular Chondrocalcinosis (Cartilage Calcification) Mutation in the TITF1 Gene Movements Exacerbated by Anxiety Gait Abnormalities May Occur Dysarthria May Occur Frequency and Severity of Symptoms Do Not Worsen with Age Episodes Typically Occur Several Times a Week Episodes May Last Less than 30 Minutes or More than Several Hours Episodes Begin with Muscle Tightening Lower Lip Cysts Lower Lip Pits Congenital Ankyloblepharon Filiforme Isolated Cases (75-80%), Familial (10-15%), and Syndromal (1-5%) Mutation in the Homolog of the Drosophila Muscle Segment Homeo Box Nonsyndromic Cleft Lip with or without Cleft Palate One Third of Patients Represent New Mutations Respiratory Distress in Early Infancy Short Middle Phalanges of Second and Fifth Fingers Long Second Metacarpal Broad Femoral Head with Short Femoral Neck Mineralization of Pubic Bone Delayed Hypoplastic Paranasal Sinuses Bossing of Occipital Bone Metopic Groove Moderately Short Stature Also Called 'Heterozygous OSMED' and 'Autosomal Dominant OSMED' See Also Congenital Stiff Person Syndrome Good Response to GABA-Enhancing Medications Good Response to Immunotherapy (IVIG or Plasmapheresis) Acquired Sporadic Disorder Approximately 60% of Patients Have Anti-GAD65 Antibodies Involuntary Continuous Motor Activity at Rest (EMG) Heightened Sensitivity to External Stimuli Lumbar Paraspinal Rigidity Causes Exaggerated Lumbar Lordosis Stiff Gait Often Asymmetric Limb Muscle Stiffness Proximal Limb Muscle Stiffness Axial Muscle Stiffness Symmetric Chronic Fluctuating Muscle Stiffness and Rigidity Fourth Digit Hypophalangism Absent Dorsal Skin Creases Over Affected Joints