Title :

Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey.

Author(s) :

Vicart, Savine [Auteur]
Centre de recherche en Myologie – U974 SU-INSERM
Péréon, Yann [Auteur]
Centre de reference des maladies neuromusculaires Nantes-Angers, CHU d'Angers et Nantes
Ghorab, K. [Auteur]
Service de Neurologie [CHU Limoges]
Pegat, A. [Auteur]
Dufresne, R. [Auteur]
Noury, J. B. [Auteur]
Lymphocytes B, Autoimmunité et Immunothérapies [LBAI]
Nadaj-Pakleza, A. [Auteur]
Service de Neurologie [Strasbourg]
Tard, Celine [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Sacconi, S. [Auteur]
Hôpital Cimiez [Nice] [CHU]

Journal title :

Revue Neurologique

Abbreviated title :

Rev Neurol (Paris)

Publication date :

2024-06-08

ISSN :

0035-3787

English keyword(s) :

Non-dystrophic myotonia
Mexiletine
Quality of life
Disability
Survey

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Non-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life. To reduce the impact of NDM, patients develop coping strategies such as lifestyle adaptation and avoiding key triggers. To understand ...
Show more >Non-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life. To reduce the impact of NDM, patients develop coping strategies such as lifestyle adaptation and avoiding key triggers. To understand how myotonia affects patients’ lives, the IMPACT survey, an online questionnaire on patient-reported outcomes, was developed based on international IMPACT questionnaire. The French IMPACT 2022 survey was completed by 47 NDM French patients. Besides muscle stiffness (98%), patients reported muscle pain (83%), falls (70%) and anxiety (77%). These issues negatively impacted abilities to work/study (49%), daily life at home (49%) and overall mobility outside (49%). Most patients (96%) reported ongoing pharmacological treatment (mexiletine, 91%) associated with improvement in muscle stiffness (100%) and reduction in falls (94%), muscle pain (87%) and anxiety (80%). Patients were moderately satisfied (19.1%), satisfied (42.6%) and very satisfied (29.8%) with the current management; 32% rated their quality of life positively (≥ 8 on 10-point scale). In conclusion, this French survey confirms the impact of myotonia on daily life and quality of life. The improvement in patient-reported outcomes in treated participants highlights the importance of managing myotonia with effective treatments. More work should be initiated to assess the importance of NDM symptom management and patients’ adherence and compliance to treatment.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Submission date :

2024-06-09T21:00:58Z
2024-06-17T07:40:34Z