On March 18, 2025, a lecture titled "Alpha-Mannosidosis: Recognizing Typical Manifestations to Facilitate Early Diagnosis" was held in Aktobe. The event brought together specialists in otorhinolaryngology and audiology interested in studying rare hereditary diseases affecting hearing and overall patient health.
During the lecture, genetic and biochemical aspects of alpha-mannosidosis—a rare inherited disorder that can lead to progressive hearing loss, neurological impairments, and skeletal abnormalities—were discussed.
Key Discussion Topics:
- Genetic mechanisms and biochemical aspects of alpha-mannosidosis
- Early symptoms and challenges in diagnosing the disease
- Hearing loss as one of the first indicators of the condition
- Modern laboratory diagnostic methods
- Treatment prospects and new therapeutic approaches
One of the key takeaways from the lecture was the recognition of the importance of early detection of alpha-mannosidosis. Since hearing loss can be the first symptom of the disease, audiologists and otorhinolaryngologists play a crucial role in timely diagnosis. The use of genetic testing and biochemical analyses significantly accelerates diagnosis and allows for the initiation of necessary therapy at early stages.
The event took place in a friendly and professional atmosphere, giving participants the opportunity not only to expand their knowledge but also to discuss clinical cases, exchange experiences, and explore modern diagnostic and treatment approaches for rare diseases.
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