Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology最新文献

Introduction: Fat embolism syndrome (FES) is a rare but potentially life-threatening complication of long bone fractures, typically described in high-energy trauma. In patients with Duchenne Muscular Dystrophy (DMD), even minor trauma can result in FES, owing to long-standing osteoporosis and prolonged corticosteroid therapy, and the recognition can be challenging.

Materials and methods: We report a case series of three non-ambulatory patients with DMD who developed fat embolism syndrome following traumatic events. Clinical presentation, diagnostic challenges, and management strategies were retrospectively analyzed.

Results: All three patients presented with features consistent with FES, with diagnostic difficulties related to atypical mechanisms of injury and overlapping neuromuscular symptoms. Timely supportive management led to favorable clinical outcomes in all cases.

Discussion: These cases illustrate the critical need to closely consider FES in DMD patients who experience unexplained respiratory or neurological decline following trauma.

Conclusion: Prompt recognition and a multidisciplinary approach are critical to minimizing morbidity and supporting recovery.

Pathogenic variants in SPG7 cause autosomal dominant progressive muscular atrophy. SPG7 encodes an inner mitochondrial membrane protein, paraplegin. Burgeoning lines of evidence have continued to suggest important roles for paraplegin in mitochondria function. Here we report elevated levels of biochemical markers of mitochondria dysfunction [3-methylglutaconic acid and 3-methylglutaric acid (in urine and blood) as well as plasma Growth Differentiation Factor 15 (GDF 15)] in a 65-year-old woman with a heterozygous pathogenic SPG7 variant [c.1529C > T (p.Ala510Val)], and evidence of muscle disease as well as chronic cerebral vasculopathy.

Introduction: Focal myositis is a rare inflammatory disease characterised by localised involvement of a single muscle or muscle group. Involvement of the sternocleidomastoid muscle represents an extremely rare localisation.

Materials and methods: We report the case of a 78-year-old woman who developed progressive left laterocervical swelling and pain following a respiratory infection. Extensive clinical and radiological investigations were performed; however, a definitive diagnosis was achieved only after muscle biopsy.

Results: The patient initially responded to corticosteroid therapy but subsequently developed steroid dependence. For long-term disease control, methotrexate was introduced as a steroid-sparing agent. The clinical course was notable for recurrent disease exacerbations associated with fever.

Discussion: This case presents several distinctive features, including occurrence in an elderly patient, the presence of fever during disease flares, and a steroid-dependent course requiring second-line immunosuppressive therapy. These aspects contribute to the diagnostic and therapeutic complexity of focal myositis, particularly in atypical localisations.

Conclusion: Our experience highlights the diagnostic challenges associated with this rare entity and suggests that prolonged immunosuppressive treatment may be necessary in selected patients with focal myositis.

Introduction: Muscular diseases (MDs) are rare genetic conditions marked by progressive motor, cardiac, and respiratory decline, often accompanied by significant psychological and social challenges. Anxiety, depression and reduced quality of life (QoL) are common among individuals with MDs, highlighting the importance of integrating psychological assessment and support into multidisciplinary care. Although evidence on psychosocial interventions remains limited, emerging research suggests that nature-based therapeutic activities -particularly adapted sailing - can reduce anxiety and enhance psychological well-being in people with various disabilities. Recent studies indicate improvements in state anxiety, QoL, and respiratory perception associated with exposure to the marine environment.

Patients and methods: Based on this evidence, the multidisciplinary team of the Naples NeMO Clinical Center developed the "Anima Libera" project, a sailing-based therapeutic program aimed at evaluating the psychological and clinical effects of an integrated intervention for individuals with muscular diseases.

The project included 12 patients with different types of muscular dystrophies aged between 28 and 55 years.

Results: All patients showed an improvement in psychological well-being and respiratory parameters.

Discussion and conclusions: These data, although preliminary indicate that sailing could act as a complementary therapeutic tool within psychological support and rehabilitation programs for patients with muscle diseases.

Giant Cell Myositis (GCMm) is an exceptionally rare inflammatory myopathy, historically reported in association with Myasthenia Gravis (MG), Thymoma, or Giant Cell Myocarditis (GCMc). The prognosis is often dictated by the frequently co-occurring, highly lethal GCMc. We describe the case of a 31-year-old male presenting with a three-month history of progressive, painful, and diffuse pseudohypertrophy of the lower extremities. Laboratory findings, including normal creatine kinase, were largely unremarkable, but a muscle biopsy demonstrated the pathognomonic infiltration by multinucleated giant cells. Extensive work-up, including cardiac magnetic resonance imaging and a full autoantibody panel, showed no evidence of cardiac, ocular, or associated thymic disease or MG. This is, to our knowledge, the first reported case of GCMm presenting as an isolated skeletal muscle disease without any known associated systemic conditions, underscoring the importance of considering GCMm in the differential diagnosis for unexplained limb pseudohypertrophy, even in the absence of typical comorbidities or profound muscle weakness.

Background: Xp21 contiguous gene deletion syndrome is a rare X-linked disorder involving deletions of DMD, GK, and NR0B1 (DAX1), leading to a combination of Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. Diagnosis can be delayed due to overlapping symptoms, especially in critically ill infants.

Case reports: We describe two male infants presenting in early life with adrenal insufficiency, electrolyte imbalance, hyperpigmentation, and hypotonia. Biochemical findings included elevated ACTH, low cortisol, high CK, and pseudo-hypertriglyceridemia. In the first case, delayed diagnosis led to sudden death at 7 months. In the second case, early clinical suspicion enabled timely genetic testing and family screening. MLPA revealed DMD gene deletion in both cases. In the second case, molecular karyotyping confirmed deletion at Xp21.3-p21.1; the mother and sister were also carriers.

Conclusion: Clinicians should consider Xp21 syndromes in male infants with adrenal insufficiency and neuromuscular or metabolic signs. Early recognition and genetic testing are crucial for accurate diagnosis, effective management, and informed family counseling.

Objectives: This case report explores the feasibility and effects of long-term physical exercise (PE) in a patient with TRPV4-related scapuloperoneal spinal muscular atrophy (SPSMA).

Methods: We describe a 26-year-old male who regularly engaged in supervised PE since age 21. He underwent annual clinical evaluations and laboratory assessments every 25 months to monitor maximal oxygen consumption (V̇O₂max), muscle strength, body composition, and emotional well-being.

Results: Over five years, the clinical condition remained stable. The patient showed V̇O₂max and handgrip strength values comparable to athletic cohorts; body composition aligned with reference values for age- and sex-matched healthy individuals; and limb muscle strength was preserved over time. Additionally, he maintained an active working life and consistently reported positive emotional well-being throughout the follow-up period.

Conclusions: This report provides preliminary data supporting the feasibility and potential benefits of long-term PE in the management of TRPV4-related SPSMA.

Congenital myopathies are a heterogeneous group of rare inherited muscle disorders. Despite the good sensitivity of whole-exome sequencing in detecting pathogenic variants, many cases remain molecularly unsolved. Here, we present the case of a woman with congenital myopathy that remained unsolved for many years, in which the application of whole-genome sequencing enabled the identification of a novel deep intronic mutation in the MYH7 gene.

A 22-year-old woman developed muscle weakness since infancy, with frequent falls, toe-walking, and difficulty climbing stairs. Muscle biopsy revealed atrophy of type 1 fibers relative to type 2, consistent with fiber-type disproportion. After a long "molecular odyssey," whole-genome sequencing performed on the patient-parents trio identified a de novo deep intronic variant in MYH7.

This case further underscores the importance of pursuing the search for the causative gene to enable more accurate clinical monitoring and tailored health care.