[HTML][HTML] Myotonic dystrophy type 1 drug development: A pipeline toward the market
Abstract Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular genetic disease
with an estimated prevalence of approximately 1 million individuals based on its vast ethnic …
with an estimated prevalence of approximately 1 million individuals based on its vast ethnic …
Inherited myotonias
The inherited myotonias are a complex group of diseases caused by variations in genes that
encode or modulate the expression of ion channels that regulate muscle excitability. These …
encode or modulate the expression of ion channels that regulate muscle excitability. These …
[PDF][PDF] Understanding the impact of non-dystrophic myotonia on patients and caregivers: results from a burden of disease healthcare survey
Non-dystrophic myotonias (NDM) manifest as delayed muscle relaxation leading to muscle
stiffness. This may diminish or worsen with repeated contractions, depending on NDM …
stiffness. This may diminish or worsen with repeated contractions, depending on NDM …
[HTML][HTML] Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey
S Vicart, Y Péréon, K Ghorab, A Pegat, R Dufresne… - Revue …, 2024 - Elsevier
Non-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life.
To reduce the impact of NDM, patients develop co** strategies such as lifestyle adaptation …
To reduce the impact of NDM, patients develop co** strategies such as lifestyle adaptation …
[PDF][PDF] Improving The Management of Non-dystrophic Myotonia to Benefit Care Delivery and Improve Patient Outcomes
Non-dystrophic myotonias (NDM) are rare muscle disorders caused by mutations in skeletal
voltage-gated muscle channels leading to delayed muscle relaxation after voluntary …
voltage-gated muscle channels leading to delayed muscle relaxation after voluntary …
Understanding and managing patients with adult rare diseases
Despite advances in the diagnosis and management of rare diseases (RDs), there remains
a tendency to overlook adult RD patients. In addition to the considerable number of adult …
a tendency to overlook adult RD patients. In addition to the considerable number of adult …
[PDF][PDF] Development of the Clinical Myotonia Rating Scale and a Mexiletine Prescribing and Monitoring Algorithm for Patients with Non-Dystrophic Myotonia
Y Péréon, S Sacconi, A Nadaj-Pakleza… - Neurology …, 2023 - emjreviews.com
In the rare neuromuscular disorders classed as NDM, muscle stiffness (myotonia) is the
major symptom and is defined by a delayed muscle relaxation after voluntary contraction. 1 …
major symptom and is defined by a delayed muscle relaxation after voluntary contraction. 1 …
SIMPLER: Fungi-to-human drug screening platforms towards the treatment of neurodegenerative disorders
F de Sousa Coelho - 2021 - search.proquest.com
Neurodegenerative disorders represent a group of conditions such as Alzheimer's disease,
Parkinson's disease, and amyotrophic lateral sclerosis that are responsible for substantial …
Parkinson's disease, and amyotrophic lateral sclerosis that are responsible for substantial …
A Perspective on Suitability of a Cost-Based Pricing Methodology for Repurposed Orphan Medicines: A Consideration of the Overall Value Proposition
AZ Weidenfeller, B Eslami… - Value in …, 2022 - valueinhealthjournal.com
The authors presented arguments for using cost-based pricing models to develop pricing
strategies for repurposing existing or previously authorized medicines in new rare disease …
strategies for repurposing existing or previously authorized medicines in new rare disease …