Myasthenia, SMA, Becker muscular dystrophy and GNE myopathy: Research highlights 2026 – No. 7
Sleep, treatments, natural history and symptom monitoring are highlighted in several neuromuscular diseases in this new research highlight.
Myasthenia, SMA, Becker muscular dystrophy and GNE myopathy: Research highlights 2026 – No. 7
Sleep disorders are very frequent in myasthenia
Among people with stable autoimmune myasthenia, 68% reported disturbed sleep quality and/or quantity, according to a study involving 306 patients (including 23 adolescents) followed in several expert centres in China. The risk of insomnia increases with age. It is also higher in patients whose first myasthenia symptoms appeared after the age of 55 years, in those with generalised disease, thymoma, thymectomy and anti-AChR autoantibodies. Another study, also conducted in China and involving 163 patients exclusively with anti-AChR myasthenia, found an insomnia rate of nearly 74%. Finally, people with sleep disorders were more likely than others to experience anxiety (55%) or depression (nearly 73%). These frequently associated health problems should therefore be actively investigated.
- See the summary of the first article and the second article
Innovative treatments prolong walking ability by more than 10 years in type III SMA
Without treatment, type III 5q spinal muscular atrophy linked to SMN1 (SMA) may lead to loss of ambulation from adolescence. By analysing data from 555 affected patients, an international study suggests that recent innovative therapies could halve the risk of mobility loss. Patients treated with Spinraza or Evrysdi retained the ability to walk 10 metres independently up to a mean age of 44 years, compared with 32 years in untreated patients. The greatest benefit was observed in patients whose symptoms began before the age of 3 years (type IIIA), with loss of ambulation occurring at nearly 40 years with treatment versus 14 years without treatment. These results support treatment initiation before loss of ambulation and broad access to treatment in order to preserve mobility as much as possible in all patients.
It remains difficult to predict disease progression in Becker muscular dystrophy
The progression of Becker muscular dystrophy (BMD) is difficult to predict because it varies greatly from one patient to another, with symptoms ranging from moderate to severe. An analysis of 121 scientific publications involving 2,988 patients showed that among patients aged 18 to 40 years (the most common age group), more than two thirds had muscle weakness, nearly one third had cardiomyopathy, one quarter had scoliosis and loss of ambulation, and nearly 5% required ventilatory support. Cognitive dysfunction or cognitive decline was observed in 41% of patients of all ages. The age at which these disease milestones occurred differed greatly between patients. Categorising patients according to their clinical manifestations could help better understand disease progression over time and improve patient management.
Monitoring respiratory function in GNE myopathy
GNE myopathy belongs to the group of distal myopathies that mainly affect muscles of the extremities. However, a study involving nine patients confirmed that respiratory function may also be impaired. Even when tests such as spirometry or blood gas analysis are normal, respiratory muscle weakness may still be present subclinically, meaning “invisibly” without being noticed in everyday life. Nearly half of the patients followed had reduced inspiratory muscle strength or less effective coughing. In addition, sleep apnoea was very frequent, affecting two thirds of participants. These findings highlight the importance of integrating respiratory assessments and sleep analysis into medical follow-up.