More than a year ago, Aleksandra Nadaj-Pakleza left Poland to come to France. She is in the last year of medical studies, specializing in neurology, and is carrying out her training course at the Myology Institute. Her PhD, obtained in Poland, concerned congenital myopathies.

In 2004 Aleksandra worked at the Myology Institute during 5 weeks, thanks to an EFNS (European Federation of Neurological Societies) grant. When she had the opportunity to return to the Myology Institute for 1 year, she did not hesitate. Besides the many specialists that are present for the benefit of the patients, access to various diagnostic techniques is quickly accessible and easy.

After having consulted at the Institute during one year, she is now entirely devoted to research on type III glycogenosis (a recessive monogenic disease, caused by different mutations of the same gene).

 

The natural history of type III Glycogenosis

This year she is working on a protocol concerning metabolic myopathies, glycogenoses, particularly type III glycogenosis (Cori or Forbes disease) which affects the muscles and the liver. Approximately 20 patients with muscular problems are followed at the Institute. This is a very important group, considering the rarity of the disease. Some are sent by Pr Labrune, from the Béclère Hospital in Clamart, but some patients come of their own initiative when they have muscle discomfort. Sometimes, hepatic problems, which often appear before myopathy, go unnoticed during childhood, and the disease only appears due to its muscular symptoms.

 

These patients are hospitalized and a blood assay for debranching enzyme allows to determine if they are affected by type III glycogenosis. Other analyses are made to improve the diagnosis and describe the disease. The patients are subjected to different muscle examinations: the grip-test (forearm strength test), Carbon-13 NMR spectroscopy (to quantify glycogen overload in the muscle) and Phosphorus-31 (which allows to visualize muscle metabolism during an effort), the physiotherapist’s assessment, the MFM scale (which allows to observe which part of the body or which movement causes a problem for the patient). Cardiac and respiratory assessments are also carried out, as well as genetic investigations.

 

Aleksandra tries to correlate the genotype and phenotype. She is looking for signs that are common in all of the patients, and other signs attached to a specific mutation. The objective is to be able to predict the development of the disease after detecting the mutation among young patients in order to manage the disease and enable them to control it in the best possible way. In fact, the disease causes glycemic disorders: the mutation leads to the absence of the debranching enzyme, which cleaves glycogen into glucose, and thus results in an accumulation of glycogen in the liver and the muscles. To alleviate these problems of hypoglycemia, patients are encouraged to regularly eat  foods rich in long chain carbohydrates. When muscular problems begin, the rehabilitation can be beneficial.

 

Aleksandra insists on the fact that the Telethon is used to finance research on rare diseases, which is very expensive: to make advances in this type of disease, many funds are necessary and the government is not inclined to finance them. More importantly, the Telethon helps resident patients in their everyday life. Thanks to the Telethon, the quantity of information on neuromuscular diseases and principally on rare diseases (for example, mucoviscidosis) related to the public and doctors in general has increased. Aleksandra was able to take part in a specialized training program on neuromuscular diseases, thanks to the Myology Summer School: “The best specialists participated, it is very professional, and one has the possibility of obtaining a grant. There is always something being organized at the Institute to gain insight into NMNs, and the “simple” neurologist is starting to become very well informed! ”