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Unveiling the Hidden Truths: What Every Practitioner Must Know About Sengers Syndrome

Unveiling the Hidden Truths: What Every Practitioner Must Know About Sengers Syndrome

Understanding Sengers Syndrome: A Path to Better Outcomes

As practitioners dedicated to enhancing children's lives, it's crucial to stay informed about rare conditions like Sengers syndrome. This autosomal recessive disorder, characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, is caused by mutations in the acylglycerol kinase (AGK) gene. A recent study, "Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients," provides valuable insights that can guide us in improving outcomes for affected children.

Key Findings from the Research

The study analyzed seven new families with Sengers syndrome, identifying six novel AGK mutations. These mutations result in either a severe form of the syndrome, often leading to infantile death, or a milder form with longer survival. The research highlights the importance of understanding the genotype-phenotype correlation in managing this condition.

Implications for Practitioners

Understanding the genetic underpinnings of Sengers syndrome can significantly impact clinical practice. Here are some ways practitioners can leverage this knowledge:

Encouraging Further Research

While this study provides significant insights, it also highlights the need for further research. Practitioners are encouraged to contribute to ongoing research efforts to deepen our understanding of Sengers syndrome and improve outcomes for affected children.

To read the original research paper, please follow this link: Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.


Citation: Haghighi, A., Haack, T. B., Atiq, M., Mottaghi, H., Haghighi-Kakhki, H., Bashir, R. A., Ahting, U., Feichtinger, R. G., Mayr, J. A., Rötig, A., Lebre, A.-S., Klopstock, T., Dworschak, A., Pulido, N., Saeed, M. A., Saleh-Gohari, N., Holzerova, E., Chinnery, P. F., Taylor, R. W., & Prokisch, H. (2014). Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet Journal of Rare Diseases, 9(1), 119. https://doi.org/10.1186/s13023-014-0119-3
Marnee Brick, President, TinyEYE Therapy Services

Author's Note: Marnee Brick, TinyEYE President, and her team collaborate to create our blogs. They share their insights and expertise in the field of Speech-Language Pathology, Online Therapy Services and Academic Research.

Connect with Marnee on LinkedIn to stay updated on the latest in Speech-Language Pathology and Online Therapy Services.

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