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Life with a handbrake on – people with non-dystrophic myotonia



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Frankfurt am Main / Dortmund (ots)

A boy is standing on the edge of the pool, jumping on the cold Water and sinking – even though he could swim. He could not learn why his arms and legs failed him in certain situations until he was a teenager: As one of nearly 600 people in Germany, he suffers from non-dystrophic myotonia, or NDM in short. The little boy of the time was called Volker Kowalski and meanwhile the first chairman of the patient organization Mensch & Myotonie eV NDM was a group of hereditary muscle disorders with one common feature: muscles can only be slow after a strain such as shaking hands, climbing stairs or flashing to rest ̵

1; as if suddenly pulling a handbrake.

But not only in cold swimming pools, caution is required, as even harmful conditions can quickly deteriorate. Once in a while stumble across the street and tighten the muscles. Until you get up again, the cars are long green. Strong honking increases stress and makes it worse. Most members of Mensch & Myotonie e.V. aware of such situations. But not all are equally brave, because myotonia expresses them individually. With extremely weak symptoms, those affected usually repair. Everyone does their own tricks to cope with myotonia and hide the symptoms from others: for example, take a cup of coffee again before getting up from the coffee table – this relaxes the stiff muscles. Usually, all the muscles that serve the movement are affected by muscle blockage. A heavy fall in daily life can be the result. Occasionally, the symptoms can also get worse over time.

Poor endurance, weak muscle

It is difficult to explain to outsiders how much they suffer from their condition. "Many of us look very athletic, but sometimes we can't even hold a glass with one hand," Kowalski explained. Because in addition to muscle stiffness are reported those affected by muscle weakness, a weak stamina and muscle soreness. Even doctors find it difficult to properly relate to the often vague symptoms of this rare condition. Many patients undergo a yearly odyssey before being diagnosed correctly.

One of the most knowledgeable was Professor Benedikt Schoser. NDM expert and neurology expert at the University of Munich spoke at a general conference of Mensch & Myotonie e.V. about the Friedrich-Baur-Institut planned patient enrollment. "Although the experts still know very little about NDM," Schoser said. "With the new registry, each patient with NDM will help us learn more about the disease." Who has the symptoms? How much does myotonia limit the daily life of those affected? Who helps with what medications? To date, there is only one drug officially approved for the treatment of myotonia in NDM. Since the beginning of 2019 the Hormosan has distributed it to Germany. "My hope is that our members' personal experiences and close collaboration with experts such as Professor Schoser will help to further improve medical care," Kowalski concluded. "To do this, we all need to pull everything together – especially in rare diseases like NDM."

About non-dystrophic myotonia:

Non-dystrophic myotonia is a group of hereditary muscle diseases in which there is excess or incapacity of the muscular cell membrane. The cause is mutations in the muscular chloride or sodium channel. Chlorothral canal myotonia (Thomson and Becker myotonia) is clinically associated with muscle stiffness (myotonia) due to excessive delay of muscle relaxation. The characteristic is the so-called warm-up phenomenon, i. Muscle stiffness is reduced by repetitive movements. In sodium channel myotonia (potassium-sensitive myotonia and paramyotonia congenita) there is a disturbed inactive sodium channels. In paramyotonia, muscle stiffness especially in cold weather and worsened by increased physical activity (paradoxical myotonia).

About Mensch & Myotonie eV:

Mensch & Myotonie eV is the first non-profit registered organization in Germany. mainly for those affected by non-dystrophic myotonia types Thomsen, Becker and sodium channel myotonia. Access and additional membership are free and in principle also open to those with other neuromuscular diseases. Regular members' meetings provide a rare opportunity to get to know other people. Club members and interested parties can also inform themselves at the organization's own myotonia-specific online forum about personal experiences with different 'treatment options' and exchange their own daily experience. or register as a member. The contact person is 1.Presitzende Volker Kowalski. Contact by phone: 0231 – 80 32 90 (from 12pm) or by e-mail: vocabulary@online.de.

About Hormosan Pharma GmbH:

Founded more than 50 years ago in Frankfurt am Main, Hormosan Pharma has been a member since 2008 to the international Lupine Group. As part of this affiliation, Hormosan Pharma specializes in niche products, the original and most common medicine in the major areas of CNS, HIV, disease and gynecology.

This process was last supported by the acquisition of TEMMLER PHARMA & # 39; s German pharmaceutical portfolio in 2015 The GMBH & CO KG by Lupine Limited. It fills a portfolio of Hormosan specialty products in the CNS area with indications Chorea Huntington and Myasthenia gravis. The company's aim is to develop a broad spectrum of specialty expertise in its core portfolio, which includes over 500 articles (PZN) in over 40 different indicators. It is characterized by products or diseases that require special explanation, such as myasthenia gravis, cluster headache, or non-dystrophic myotonia, affecting only about 800 patients in Germany.

Press contact:

Dr. Sebastian Alers
Dorothea Küsters Life Science Communications GmbH
Leimenrode 29
D-60322 Frankfurt / Main
T: +49 (0) 69 61998-22
alers@dkcommunications.de

Dr. Annett Noack
Hormosan Pharma GmbH
Phone: +49 (0) 69 47 873 22
annettnoack@hormosan.de

Original Content by: Hormosan Pharma GmbH, sent by aktuell news

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