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Mutations in the HSPB8 Gene Thin Myelinated Axons Emg Shows Denervation and Fibrillation Potentials Sensory Nerve Action Potentials Decreased or Absent Motor Nerve Conduction Velocity Normal (>38 m/s) Proximal Muscle Involvement Rarely Occurs Progresses to Involve Upper Distal Limb Muscles Mean Age at Onset 46.5 Years Brain Imaging Shows Calcification of the Dentate Nucleus Mild Nystagmus Upper Limb Ataxia Cutaneous Dimples -Knees Elbows Shoulders Deficient Fibroblast AICAR-TF Activity Erythrocyte AICAR Elevated Urine and Cerebrospinal Fluid 5-Amino-4-Imidazolecarboxyamide Elevated Urinary Bratton Marshall Test Positive Intrafamilial Variability Sensory Involvement (EMG) Sural Nerve Biopsy Shows Loss of Myelinated Fibers Decreased Touch Sensation Vibration Sense Abolished More Common in Females (Male-to-Female Ratio = 4:1) Loss of Subcutaneous Adipose Tissue from Upper Limbs and Trunk Progressive Loss of Facial Adipose Tissue Sunken Face Volume of Cerebral Cortex Decreased Less Severe Loss of Unmyelinated Fibers Marked Loss of Myelinated Fibers (Sural Nerve Biopsy) Caused by Mutations in the Matrilin 3 Gene (MATN3 602109-0005) Irregular, Small Epiphyses Wide Metaphyses with Lateral Spurs Underossified Ischia Flat, Oval-Shaped Vertebral Bodies Mutation in the Insulin-Like Growth Factor 1 Gene Insulin-like Growth Factor I Decreased Small Eyes Onset at Age 18-65 Years Sensory Neuropathy Reported Incoordination of Trunk and Limbs Mutation in the PPM2C Gene PDH Phosphatase Activity Decreased Pyruvate Dehydrogenase Complex Activity Decreased Disialotransferrin and Asialotransferrin Increased Tetrasialotransferrin Levels Decreased Contracture of Ankle Upper Limb Undergrowth 'Gothic' Palate No Visual Fixation Death Occurs before 12 Months of Age due to Cardiorespiratory Arrest Symptoms Develop Immediately after Birth Affected Infants Appear Normal at Birth Staccato Cry ('Goat-Like') Variable Heart Rate Abnormal Pattern of Respiration Ocular Muscle Palsies Poor Growth Number of Sertoli Cells Decreased Number of Leydig Cells Decreased Arrested Cell Development in the Testes Tortuous Vascularity in the Testes Variable Maturation of Genitalia in Males No Neuropathologic Findings in Brain Stem and Anterior Horn Cells Facial Nerve Weakness Hyperactive Startle Reflex Decreased Upper Extremity Reflexes Visceroautonomic Dysfunction Mutation in the Titin Gene No Cardiomyopathy Secondary Decrease of Calpain 3 Protein Expression in Muscle Fatty Infiltration of Affected Muscles No Facial Muscle Involvement Loss of Ambulation between Third and Sixth Decade Severe Disability within 20 Years of Onset Mild Distal Muscle Weakness Diffuse Erythematous Maculopapular Rash B-Cell Count Decreased Friable Duodenum Severe Malabsorptive Diarrhea MRI: Patchy Diffuse Hyperintensities Severely Delayed Development Z Disks with Abnormal Homogeneous Material Fiber Size Variation Velopharyngeal Muscle Weakness Achilles Reflex Decreased Distal Muscle Weakness - Occurs Initially See Also Infantile and Late Onset CPT II Deficiency Sudden Death within First Days of Life Lipid Accumulation in Heart Hypoplastic Toenails Absence of CPT II Protein Palmitate Oxidation Severely Decreased Tissue Levels of Free Fatty Acids Increased Tissue Triglycerides Increased Increased Tissue Long-Chain Fatty Acids Tissue Total and Free Carnitine Decreased Plasma Total and Free Carnitine Decreased Tissue Long-Chain Acylcarnitines Increased Long-Chain Acylcarnitines Increased Long Tapering Toes Extra Digital Creases in Digits 2-4