Spinal muscular atrophy (SMA) is a motor neuron disease with loss of musculature, which is replaced by fat. Previous magnetic resonance imaging (MRI) studies have focused on imaging muscles either in lower or upper extremities, but whole-body MRI can provide additional information on the involvement pattern. This study examined whole-body muscle fat replacement and the relationship between muscle structure, function, and bulbar symptoms. We conducted a descriptive, cross-sectional study. We assessed the fat replacement in skeletal muscles using whole-body MRI, the muscle function using the Motor Function Measurement 32, and bulbar muscle strength using the Bulbar Rating Scale. The presence of bulbar symptoms and function was assessed using the Voice Handicap Index, Eating Assessment Tool questionnaires, and a swallowing test. We recruited 20 adult patients with type II and III SMA. The most affected muscles were the psoas major, soleus and rectus femoris, while the least affected muscles were the biceps brachii, deltoideus, and pterygoideus medialis. The tongue was involved in nearly half of the patients. Most patients reported issues with swallowing (75%) and voice (95%) but had relatively preserved strength of bulbar muscles. Certain muscles are more prone to fat replacement than others in SMA, with a predominant proximal-distal and extensor-flexor involvement. Nearly half of the patients had increased fat content in the tongue, which is associated with dysphagia. In addition, most patients retained muscle strength in the bulbar muscles, despite advanced muscle weakness in the rest of the body.

Rheumatoid arthritis (RA) and spinal muscular atrophy (SMA) are distinct diseases with vastly different pathophysiologic origins: autoimmune and neurodegenerative, respectively. Their co-occurrence is exceedingly rare and, to our knowledge, previously unreported. We report the case of a 41-year-old female with a seven-month history of inflammatory polyarthritis and a six-year history of undiagnosed progressive proximal muscle weakness. Clinical, serological, and electrophysiological findings confirmed diagnoses of RA and SMA type 4. This unique case underscores the importance of comprehensive evaluation in adults presenting with both joint inflammation and neuromuscular weakness. It also highlights the need for multidisciplinary care and calls for further research into shared mechanisms across neurodegenerative and autoimmune diseases.

Background: Spinal muscular atrophy type 1 (SMA1) is a severe neuromuscular disorder characterized by progressive muscle weakness and atrophy, including the muscles of the oral cavity and esophagus. Eosinophilic esophagitis (EoE), a chronic, allergic disease, presents with eosinophilic infiltration of the esophagus, leading to esophageal dysmotility. Feeding difficulties may occur in both conditions. So far, the coexistence of EoE and SMA1 has not been described; we present the first such case. Case presentation: The patient was a girl with SMA1 diagnosed shortly after birth, treated with nusinersen and onasemnogene abeparvovec, and fed a standard industrial diet through a gastrostomy. In her second year of life, she developed increasing symptoms: distress during feeding, regurgitation, vomiting, and weight loss. She was treated with proton pump inhibitors without clinical improvement. Gastroscopy was performed, revealing superficial epithelial damage with bleeding in the proximal esophagus. Histopathology showed chronic inflammation with up to 150 eosinophils per high-power field, microabscesses, spongiosis, and basal layer hypertrophy. The girl was diagnosed with EoE. Her diet was switched from a standard industrial formula to an amino acid-based formula, which led to marked clinical improvement, the resolution of symptoms, and appropriate weight gain. Conclusions: This case report highlights the challenges of diagnosing EoE in SMA1 patients and emphasizes the need for multidisciplinary approaches and further investigation of allergic manifestations in SMA1 patients.

The surgical treatment of scoliosis in type 2 spinal muscular atrophy (SMA2) is challenging and little described in the literature due to its rarity and fragility of the patients. The aim of this study was to review the surgical strategies and outcomes in patients with SMA2 who underwent surgery for scoliosis at a French reference neuromuscular center. All consecutive patients with genetically confirmed SMA2 who underwent spinal surgery between 2009 and 2022 at our French reference center were retrospectively analyzed. They were divided into 2 groups, according to their primary surgery: either magnetically controlled growing rods (MCGR) or posterior spinal fusion (PSF). Demographic, respiratory, and radiologic parameters were collected preoperatively and at the latest follow-up. All complications were reported. Patients and/or caregiver-reported outcome questionnaires were also used to assess the improvement of sitting posture. Seventeen patients underwent MCGR, and 9 patients underwent PSF during the inclusion period. Mean follow-up was 5.3±1.8 years in the MGCR group, and 8.0±4.5 years in the PSF group. The average age at surgery was 9.7±1.6 years in the MCGR group and 12.6±1.7 years in the PSF group. Pelvic fixation was performed using a Tconstruct (2 sacral and 2 iliac screws). PSF was performed with all levelled pedicle screws. In the MGCR group, upper thoracic fixation was lateral ribs (n=4), vertebral on three levels (n=9), or hybrid costo-vertebral (n=4). No blood transfusion was required. No differences were found between preoperative and postoperative lung function tests for the 2 surgical procedures. The major curve correction rate was 44% in the MCGR group and 55% in the PSF group. The pelvic obliquity at last follow-up was <5 degrees in all patients. Three unplanned surgeries occurred: 1 MGCR change after lengthening and 2 PSF-one for proximal hook migration and one for infection. All patients improved their ability to sit. In this series, PSF and MGCR allowed stable radiographic and respiratory results, with a reduced rate of global complications. Pelvic fixation with T-construct was a reliable and effective technique to correct pelvic obliquity in this population of patients.

Background and Objectives: Spinal muscular atrophy (SMA) is a progressive, autosomal recessive, rare neuromuscular disorder caused by a genetic defect in the SMN1 gene, where the SMN2 gene cannot sufficiently compensate. Patients experience progressive and predominantly proximal muscular weakness and atrophy. Oculomotor disorders are currently not regarded as a typical feature of SMA. The aim of this study was to determine whether oculomotor abnormalities are present in subjects with SMA and to assess a potential relationship between the oculomotor parameters and disease duration. Materials and Methods: An analysis of 15 patients with SMA type 2 and type 3 and 15 age-matched healthy controls was conducted. The oculomotor performance, including the analysis of smooth pursuit velocity gain and saccades parameters (latency, velocity, accuracy) in the horizontal and vertical directions, was compared between both groups. Results: The analysis of smooth pursuit gain in the participants revealed a marginally significant reduction between the SMA patients and the healthy controls in the horizontal direction at a frequency of 0.2 Hz (p = 0.051), but no significant differences were observed at any other frequency or direction. The vertical velocity of the saccade eye movements of the SMA patients was increased compared with the healthy subjects, which was statistically significant for the amplitude of ±10° (p = 0.030), but not for the amplitude of ±16.5° (p = 0.107). The horizontal saccade latency, saccade velocity and saccade accuracy did not differ significantly between the SMA patients and the controls. None of the oculomotor parameters were associated with disease duration. Conclusions: While certain oculomotor abnormalities, such as increased vertical saccade velocity, were observed in the SMA patients, these findings do not indicate a defining role of oculomotor impairment in SMA pathology or its clinical characteristics.