Doenças Lisossomais-Guia para pais-sintomas, diagnóstico e suporte

Living with Lysosomal Disease Please visit lysosomaldiseasesorg or contact lysoscellglobalgenesorg for general information living with lysosomal disease or genetic counseling referrals Does my child have a lysosomal disease What do I do Go to the emergency room if your child experiences breathing difficulty or severe pain If your child develops a new sign or symptom of a lysosomal disease contact their specialist promptly Monitor your childs symptoms and growth using this tracker and communicate any changes or concerns to their specialist during appointments If you have questions about specific symptoms go to lysosomaldiseasesorg or contact lysoscellglobalgenesorg for expert information and support Share your concerns with other caregivers at lysoscellorgsupport and the ASK EXPLORER Family Support Group on Facebook Ensure regular visits to the specialist including newborn screening as recommended to manage any progression of disease Discuss with your doctor any changes to therapies or treatments In emergencies difficulty breathing severe pain loss of consciousness or seizures go to the emergency room immediately and inform the healthcare team about the lysosomal disease This is a Lysosomal Disease Lysosomal diseases are genetic disorders caused by enzyme deficiencies that lead to the buildup of harmful substances in cells Early diagnosis and ongoing management are essential for improving quality of life and outcomes Typical signs and symptoms of lysosomal diseases include developmental delay enlarged liver or spleen bone pain or deformities chronic cough or respiratory issues vision or hearing loss loss of muscle strength or coordination abnormal blood counts unusual facial features or growth patterns Each lysosomal disease has specific symptoms and may affect multiple organs or systems in the body If your child or family member presents with any of these symptoms consult a healthcare specialist immediately for evaluation and testing Early intervention and treatment can help manage symptoms and improve quality of life For more information visit lysosomaldiseasesorg 315 McConnell and Strassman 315 SOUNDINDUCED VIBRATIO N OF THE TYMPANUM IN THE European field crickets Gryllus texensis 315b Vibration velocity Web of the anteriorventral portion of the tympanum in Gryllus texensis The vertical bars indicate the stimulus onset and offset sound frequency 5 kHz amplitude peaktopeak displacement of the membrane is approximately 015 μm The waveforms are the average of 10 individual stimulus presentations recorded at stimulus amplitudes of 18 Pa 315c Vibration amplitude of anteriorventral tympanum in G texensis compared to that of a speaker diaphragm Hearing organ sensitivity Vibration velocity data were obtained by averaging the vibration velocity magnitude during pulse durations and stimulus amplitude was varied by changing the sound pressure level of the source