Neuromuscular diseases: Research highlights 2026 – No. 5
Published in recent weeks, new studies on autoimmune necrotising myopathies, Charcot-Marie-Tooth disease, muscular dystrophies, and a study including LGMD R12 limb-girdle muscular dystrophy, Becker muscular dystrophy, Steinert disease and Charcot-Marie-Tooth 1A.
A necrotising myopathy that differs according to the autoantibody involved
A London expert centre compared the health data of 57 patients followed over a 13-year period. Among them, patients with anti-HMGCR autoantibodies were nearly three times more numerous than those with anti-SRP autoantibodies, were older at disease onset (mean age 66 years versus 53 years), and had fewer non-muscular symptoms such as lung involvement (interstitial lung disease), skin involvement or arthritis. The type of autoantibody also influenced treatment response. One in ten patients with autoimmune necrotising myopathy and anti-SRP autoantibodies was eventually able to discontinue immunosuppressive treatment (remission), compared with one in five patients with anti-HMGCR autoantibodies. However, the risk of cancer was low and similar in both groups.
Fatigue influences dietary choices in CMT
Charcot-Marie-Tooth disease (CMT) can be associated with severe fatigue affecting patients’ daily lives. A British study showed that the diet of 25 adults with CMT, assessed using a 3-day food diary, was of poorer quality than that of 27 unaffected individuals (control group): recommended daily intakes, particularly micronutrients, were lower, while consumption of ultra-processed foods was almost twice as high. A correlation between fatigue severity and poor diet quality was found in both groups. The CMT group also had poorer quality of life, greater fatigue severity and reduced mobility compared with the control group.
Insufficient protein intake in adults with muscular dystrophy
A recent study compared the 3-day dietary intake of 39 adult patients (eight with facioscapulohumeral muscular dystrophy, nine with limb-girdle muscular dystrophy and 22 with other muscular dystrophies) and 15 unaffected individuals. It highlighted energy intake exceeding daily recommendations in patients compared with unaffected individuals. At the same time, protein intake was insufficient in adults with muscular dystrophy compared with the control group. Their muscle function and quality of life were also reduced. Specific nutritional recommendations for muscular dystrophies could therefore help improve muscle strength and patients’ quality of life.
When artificial intelligence accelerates diagnosis
Muscle magnetic resonance imaging (MRI) allows visualisation of muscle fibres and, in certain neuromuscular diseases, their progression, but interpretation by experts remains time-consuming and subjective. A Belgian team developed a fully automated artificial intelligence method to assist diagnosis using thigh MRI scans. Their model analyses the 18 thigh muscles and calculates the fat percentage in each of them. Tested on 109 MRI scans from 62 patients with four diseases (LGMD R12 limb-girdle muscular dystrophy, Becker muscular dystrophy, Steinert disease and Charcot-Marie-Tooth 1A) and 47 healthy volunteers, the method distinguished the four diseases with 89% accuracy. Unlike previous approaches, it can also explain its decisions: the model’s choices are consistent with disease-specific muscle characteristics described in the medical literature. The tool could accelerate diagnostic orientation and reduce the need for muscle biopsy.