Myotonia congenita

CENTOGENE to Participate in Upcoming Conferences in March

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星期三, 三月 8, 2023
Journal of Inherited Metabolic Disease, Myotonia congenita, Genetic testing, Congress, LabEx ReFi - European Laboratory on Financial Regulation, Conference, Inborn errors of metabolism, Diagnosis, Innovation, Pharmaceutical industry, Online shopping, Pharma

CENTOGENE representatives will be attending events in Brazil, the U.S., Saudi Arabia, Thailand, and the U.K. and will be available to discuss Pharma, CRO, and Diagnostic collaboration opportunities.

Key Points: 
  • CENTOGENE representatives will be attending events in Brazil, the U.S., Saudi Arabia, Thailand, and the U.K. and will be available to discuss Pharma, CRO, and Diagnostic collaboration opportunities.
  • Please see additional details below:
    To learn more about the 3rd Brazilian Congress of Neurogenetics 2023 and set up an in-person meeting with the CENTOGENE team, please visit the event webpage ( https://link.centogene.com/3KK0jgi ).
  • To learn more about the 6th Asian Congress on Inherited Metabolic Diseases 2023 and set up an in-person meeting with the CENTOGENE team, please visit the event webpage ( https://link.centogene.com/3ZpRrRe ).
  • To learn more about the European Laboratory Research & Innovation Group’s (ELRIG) Research & Innovation 2023 conference and set up an in-person meeting with the CENTOGENE team, please visit the event webpage ( https://link.centogene.com/3YKdpOh ).

Scottish Medicines Consortium approves Lupin's NaMuscla® (mexiletine) to treat symptomatic myotonia in adults with non-dystrophic myotonic disorders (NDM)

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星期二, 十二月 8, 2020
Organ systems, Rare diseases, Channelopathies, Clinical medicine, Medical specialties, Myotonia, Myotonia congenita, Mexiletine

The major clinical manifestation of the non-dystrophic myotonias is muscle stiffness as a consequence of the myotonia- delayed muscle relaxation after voluntary contraction.

Key Points: 
  • The major clinical manifestation of the non-dystrophic myotonias is muscle stiffness as a consequence of the myotonia- delayed muscle relaxation after voluntary contraction.
  • Although not life limiting, patients with non-dystrophic myotonia can experience significant lifetime morbidity due to stiffness and pain related to myotonia.
  • Patients may perceive that myotonia increases in severity over time, impacting daily life.
  • Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial.

Nexien BioPharma, Inc. Has Been Issued a U.S. Patent for the Methods and Compositions for Treating Non-Dystrophic Myotonia and Myotonic Dystrophies Types 1 and 2

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星期四, 七月 16, 2020
Biotechnology, Pharmaceutical, Health, Clinical trials, Organ systems, Neurological disorders, Drugs, Myotonia, Rare diseases, Tetrahydrocannabinol, Cannabinoid, Cannabidiol, Myotonia congenita, Myotonia and Myotonic Dystrophies (DM), Nexien BioPharma, Inc.

This patent covers methods and compositions for treating patients having non-dystrophic myotonia and myotonic dystrophies (DM Type 1 and DM Type 2) with oral formulations of cannabidiol and tetrahydrocannabinol.

Key Points: 
  • This patent covers methods and compositions for treating patients having non-dystrophic myotonia and myotonic dystrophies (DM Type 1 and DM Type 2) with oral formulations of cannabidiol and tetrahydrocannabinol.
  • We believe that a cannabinoid-based formulation could be beneficial in treating the debilitating symptoms of myotonia and DM Type 1 and DM Type 2.
  • We also believe that the issuance of this patent enhances Nexiens ability to attract a financial or industry strategic partner to help further the Companys research.
  • Myotonia refers to a neuromuscular condition in which the relaxation of a muscle is impaired and can affect any muscle group of the body.

Muscular Dystrophy Association Awards 26 Grants Totaling More Than $7.5 Million for Neuromuscular Disease Research

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星期二, 五月 14, 2019
Organ systems, Neurological disorders, Muscular dystrophy, Musculoskeletal system, RTT, Rare diseases, Muscular Dystrophy Association, Dystrophy, Myotonia congenita, Myotonia, Facioscapulohumeral muscular dystrophy, Myopathy

NEW YORK, May 14, 2019 /PRNewswire/ --The Muscular Dystrophy Association (MDA) announced today the awarding of 26 new MDA grants totaling more than $7.5 million toward research focused on a variety of rare neuromuscular diseases (NMDs), including Charcot-Marie-Tooth disease (CMT), congenital myopathies, distal myopathy, Duchenne and Becker muscular dystrophies (DBMD), Emery-Dreifuss muscular dystrophy (EDMD), facioscapulohumeral muscular dystrophy (FSHD), Friedreich's ataxia (FA), giant axonal neuropathy (GAN), inclusion body myopathy (IBM), mitochondrial myopathy, myotonia congenita (MC), myotonic dystrophy (DM), Pompe disease, and spinal muscular atrophy (SMA).

Key Points: 
  • NEW YORK, May 14, 2019 /PRNewswire/ --The Muscular Dystrophy Association (MDA) announced today the awarding of 26 new MDA grants totaling more than $7.5 million toward research focused on a variety of rare neuromuscular diseases (NMDs), including Charcot-Marie-Tooth disease (CMT), congenital myopathies, distal myopathy, Duchenne and Becker muscular dystrophies (DBMD), Emery-Dreifuss muscular dystrophy (EDMD), facioscapulohumeral muscular dystrophy (FSHD), Friedreich's ataxia (FA), giant axonal neuropathy (GAN), inclusion body myopathy (IBM), mitochondrial myopathy, myotonia congenita (MC), myotonic dystrophy (DM), Pompe disease, and spinal muscular atrophy (SMA).
  • "Each award will build upon the swift advances that have taken place in research and drug development technologies in the last several years."
  • The newly funded projects will promote research discoveries and development of new therapies on several fronts.
  • MDA previously announced funding eight new grants this year totaling more than $2 million toward research focused on amyotrophic lateral sclerosis (ALS) , a disease in which muscles become weak and eventually nonfunctional.