Demystifying Medicine Video

There are many diseases in our world that remain unnoticed and do not gain significant recognition from the media or general public. Leukodystrophy is one of these obscure diseases. The current information available to the layman about this disease is also very underwhelming. This video strives to address this knowledge gap in an informative, engaging, yet accessible manner.

There are over 50 types of leukodystrophies and the most common one is known as Krabbe’s disease. Leukodystrophy affects over 40,000 US citizens annually, yet it is still relatively unknown to most people. In fact, this disease is often misdiagnosed for cerebral palsy. The symptoms of leukodystrophies are also very difficult to decipher, because there are numerous types of leukodystrophies. Common symptoms include: abnormal muscle tone, vision, speech, memory, hearing and balance.

The video also includes the unique perspective of living with leukodystrophy from a young boy living with this disease and his mother. They provide unique insight that helps understand this disease and its effects on our daily life. With your help and understanding, we can kick down this knowledge barrier and help thousands of families across the world!

Below is a brief overview of Leukodystrophy:

Leukodystrophies are genetic disorders; this means that we inherit these diseases from our parents and cannot acquire this disease from anywhere else. In leukodystrophies, there are malformations and deficiencies in an enzyme called ‘galactosylceramidase’. When this enzyme is not working properly, there are issues in myelin development and formation. Without sufficient myelin, the entire nervous system cannot function appropriately. Here is a link to the full patient video interview if you are interested:

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  • Biffi, A., Lucchini, G., Rovelli, A., & Sessa, M. (2008). Metachromatic leukodystrophy: An overview of current and prospective treatments. Bone Marrow Transplantation, 42(2), S2–S6.
  • Boucher, A. A., Miller, W., Shanley, R., Ziegler, R., Lund, T., Raymond, G., & Orchard, P. J. (2015). Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: The largest single-institution cohort report. Orphanet Journal of Rare Diseases, 10.
  • Helman, G., Van Haren, K., Bonkowsky, J. L., Bernard, G., Pizzino, A., Braverman, N., Suhr, D., Patterson, M. C., Fatemi, S. A., Leonard, J., van der Knaap, M. S., Back, S. A., Damiani, S., Goldman, S. A., Takanohashi, A., Petryniak, M., Rowitch, D., Messing, A., Wrabetz, L., … Vanderver, A. (2015). Disease Specific Therapies in Leukodystrophies and Leukoencephalopathies. Molecular Genetics and Metabolism, 114(4), 527–536.
  • Miyake, N., Miyake, K., Karlsson, S., & Shimada, T. (2010). Successful Treatment of Metachromatic Leukodystrophy Using Bone Marrow Transplantation of HoxB4 Overexpressing Cells. Molecular Therapy, 18(7), 1373–1378.
  • National Institute of Neurological Disorders and Stroke. (2020). Leukodystrophy Information Page. Retrieved October 4, 2020, from
  • National Organization for Rare Disorders. (2016). Leukodystrophy. Retrieved October 29, 2020, from
  • Padiath, Q. S., Saigoh, K., Schiffmann, R., Asahara, H., Yamada, T., Koeppen, A., Hogan, K., Ptáček, L. J., & Fu, Y.-H. (2006). Lamin B1 duplications cause autosomal dominant leukodystrophy. Nature Genetics, 38(10), 1114–1123.
  • Parikh, S., Bernard, G., Leventer, R. J., van der Knaap, M. S., van Hove, J., Pizzino, A., McNeill, N. H., Helman, G., Simons, C., Schmidt, J. L., Rizzo, W. B., Patterson, M. C., Taft, R. J., & Vanderver, A. (2015). A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Molecular Genetics and Metabolism, 114(4), 501–515.
  • Percy, A. K., & Brady, R. O. (1968). Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood. Science, 161(3841), 594–595.
  • Ratini, M. (2019). Myelin Sheath: What They Are, Their Function, & Damage From MS. Retrieved October 4, 2020, from
  • Suzuki, K. (2003). Globoid Cell Leukodystrophy (Krabbe’s Disease): Update. Journal of Child Neurology, 18(9), 595–603.