Reducing body myopathy (RBM) is a rare X-linked myopathy caused by mutations in the FHL1 gene and characterized by intracytoplasmic aggregates that reduce menadione nitroblue tetrazolium. We report a 45-year-old female presenting with progressive proximal weakness of unknown etiology. Prior muscle biopsy and genetic testing were non-diagnostic. By repeating her muscle biopsy in a different muscle, we were able to correlate the biopsy findings with her genetic variant previously described as a variant of unknown significance. This is the first reported case of possible RBM associated with FHL1 c.401A>C (p.Gln134Pro). The case expands the genotypic spectrum of RBM and underscores the diagnostic value of repeated muscle biopsy.

Dermatomyositis (DM) is an idiopathic inflammatory myopathy characterised by proximal muscle weakness and pathognomonic cutaneous features. A well-recognised but underappreciated association exists between DM and underlying malignancy, termed cancer-associated myositis (CAM). The prevalence of malignancy in DM patients is high, with breast, ovarian, lung, and gastrointestinal cancers most commonly implicated. However, the detection of occult malignancy in young women presenting with DM remains particularly challenging due to atypical epidemiology and the limitations of standard imaging in dense breast tissue. This report presents the case of a woman in her third decade who was initially diagnosed with idiopathic DM based on heliotrope rash, Gottron papules, proximal limb weakness, elevated creatine phosphokinase (CPK), and serological positivity for anti-Mi-2 antibody. Despite the initiation of corticosteroids and methotrexate, the patient showed clinical deterioration over four weeks. Discovery of a firm left axillary lymph node on physical examination prompted further workup. Axillary node biopsy confirmed metastatic estrogen receptor-positive(ER+)/progesterone receptor-positive (PR+)/human epidermal growth factor receptor 2 (HER2)-neu+ breast adenocarcinoma. Conventional mammography and breast ultrasonography had been negative, while breast MRI identified a 1.8 mm lesion in the lower inner quadrant. Fluorodeoxyglucose (FDG)-PET/CT confirmed locoregional disease without distant metastasis. Following neoadjuvant chemotherapy, surgery, and radiation, the patient achieved complete remission of her myositis, with normalisation of creatine phosphokinase (CPK) levels, resolution of rash, and recovery of muscle strength, confirming the paraneoplastic aetiology. This case underscores the imperative to pursue malignancy screening in DM patients unresponsive to immunosuppressive therapy, regardless of age. It highlights the critical role of thorough physical examination and the superiority of breast imaging in young women with dense breasts.

The present study reports a case of limb-girdle muscular dystrophy (LGMD) associated with a pathogenic lamin A/C (LMNA) mutation (c.1622G>A). Notably, this case expands the phenotypic and genotypic spectrum of LMNA-related LGMD, and provides novel familial clinical and genetic evidence for this rare mutation. Genetic sequencing revealed a heterozygous mutation in both the proband and the mother of the proband, suggesting autosomal dominant inheritance. Electromyography (EMG) revealed reduced nerve conduction velocity and abnormal potentials in the proband and mother, indicating muscle weakness and atrophy. Magnetic resonance imaging (MRI) results showed symmetric muscle atrophy in the proximal muscles of the lower legs, with fatty tissue replacement. Both the proband and mother had elevated creatine kinase levels, whereas the father had normal levels. Transthoracic echocardiography ruled out severe heart disorders in the proband and mother. In conclusion, EMG and MRI findings indicated myopathic changes in the proband and the mother of the proband, confirming the significance of this mutation in LGMD. This familial case adds novel clinical, electrophysiological and imaging data to the existing literature on LMNA-associated LGMD. Further genetic and clinical evaluations are required to understand the long-term prognosis and potential treatment strategies for LMNA-related LGMD.

Background/Objectives: We report a case of severe dermatomyositis demonstrating characteristic widespread extraosseous uptake on [99m]Tc-methylene diphosphonate ([99m]Tc-MDP) bone scintigraphy. This study highlights the diagnostic value of this modality in detecting active inflammatory myopathy when conventional muscle biopsy is inconclusive and introduces its novel use for intraoperative gamma-probe-guided biopsy to precisely target metabolically active muscle. This approach may help target metabolically active muscle in heterogeneous idiopathic inflammatory myopathies (IIMs). Case Presentation: A 49-year-old man developed progressive proximal muscle weakness (Medical Research Council grade 2/5 proximally, 5/5 distally) beginning in June 2025 following influenza infection, accompanied by dysphagia, classic dermatomyositis cutaneous manifestations, back pain, and difficulty standing. Laboratory evaluation revealed elevated inflammatory markers (ESR 55 mm/hr, CRP 20 mg/L), leukocytosis (16.58 × 10[9]/L), markedly raised creatine kinase (19,937 IU/L), and troponin T levels. An initial quadriceps muscle biopsy performed on 29 July 2025 was non-diagnostic. Three-phase [99m]Tc-MDP scintigraphy (~1110 MBq) demonstrated intense, diffuse extraosseous uptake involving bilateral deltoids (symmetric), biceps and triceps (patchy), paraspinal muscles (longitudinal), gluteal muscles, thighs (quadriceps and hamstrings), and gastrocnemius muscles, with relative suppression of appendicular skeletal uptake on delayed images due to soft-tissue tracer dominance-findings consistent with severe inflammatory myopathy. Following reinjection (~1100 MBq), intraoperative gamma-probe-guided biopsy targeted areas of highest uptake (left quadriceps femoris and distal triceps brachii; intraoperative counts 1300-1400 versus background ~500). Histopathology revealed histiocyte-predominant inflammation with myofibre necrosis and regeneration, sparse CD4[+] T-cell infiltrates, and absence of fibrosis, consistent with necrotising myopathy. Positive antinuclear antibodies and strong anti-Mi-2 antibodies confirmed the diagnosis of dermatomyositis. Treatment included pulse methylprednisolone followed by oral prednisone taper, methotrexate, azathioprine, intravenous immunoglobulin, and planned rituximab therapy. Discussion: Whole-body [99m]Tc-MDP scintigraphy provided a complementary whole-body functional assessment of disease extent, revealing widespread muscular involvement. The novel application of intraoperative gamma-probe-guided biopsy enabled real-time targeting of metabolically active muscle, facilitating targeted sampling after an initial non-diagnostic biopsy and yielding supportive histopathological findings. This dual diagnostic and interventional role demonstrates the technical feasibility of gamma-probe guidance in a diagnostically challenging case of dermatomyositis. Conclusions: In our case, the integration of [99m]Tc-MDP scintigraphy with gamma-probe-guided biopsy enabled precise targeting of metabolically active muscle following an initial non-diagnostic biopsy. This multimodal approach may be useful in selected diagnostically challenging cases of severe inflammatory myopathy. Larger studies are needed to evaluate its reproducibility and added value.

Ectopic adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (CS), ectopic ACTH secretion (EAS) is a rare condition caused by ACTH-secreting neuroendocrine tumors (NETs), such as bronchial carcinoids. We report a 65-year-old woman with severe EAS complicated by bowel perforation. She presented with hypokalemia (K+ 2.3 mmol/L), metabolic alkalosis, resistant hypertension (180/110 mmHg), worsening diabetes (HbA1c 6.7%-9.1%), proximal muscle weakness, and 14 kg weight gain over 3 months. A silent sigmoid colon perforation required emergency resection and colostomy. Biochemical tests confirmed hypercortisolism (urine free cortisol [UFC], 1256 µg/24 h, plasma ACTH 175 pg/mL, and cortisol >40 µg/dL post-dexamethasone). Imaging identified a 2.3 cm pulmonary nodule with mild uptake on Ga-68 DOTATATE PET/CT. Bronchoscopic biopsy confirmed an ACTH-positive low-grade bronchial carcinoid tumor. Initial treatment with osilodrostat was interrupted due to acute illness and oral medication intolerance. Intravenous etomidate was employed in the ICU for rapid cortisol suppression, followed by resumption of osilodrostat after stabilization. Thoracoscopic lobectomy confirmed a low-grade carcinoid tumor (Ki-67 < 2%). Postoperatively, cortisol normalized, electrolytes stabilized, and HbA1c improved to 6.5%. This case highlights bowel perforation as a severe complication of EAS and underscores the importance of dynamic, alternating therapy with osilodrostat and etomidate, along with individualized surgical and medical management strategies.

KCNK9 imprinting syndrome is characterized by congenital central hypotonia (manifest as decreased movement, lethargy, and weak cry), severe feeding difficulties (resulting from facial weakness and poor suck), delayed development/intellectual disability, and dysmorphic manifestations. Poor feeding can cause failure to thrive during infancy unless managed appropriately. Significant dysphagia of solid foods typically persists until puberty. Intellectual disability can be severe. To date 19 individuals with a molecularly confirmed diagnosis have been reported.

The flail limb syndrome is primarily a lower motor neuron disorder that initially affects proximal arm muscles (flail arm syndrome-FAS) or distal leg muscles (flail leg syndrome-FLS). Both were recognized early on (1886 for FAS and 1918 for FLS) as somewhat distinct from classic amyotrophic lateral sclerosis (ALS). Descriptions in the literature are case series with limited information on electrophysiologic features (central and peripheral), cognitive involvement, and genetic mutations. What follows is a compilation of these features. The flail limb syndromes are rare, representing ~7%-8% of ALS. They have a higher ratio of males to females compared to classic ALS. Both are defined by predominant focal arm or leg weakness for ~2 years before progression to other regions, although there can be early and mild clinical or electrophysiologic evidence for denervation and reinnervation in other regions during the initial period. Ultimately, there is progression to respiratory failure, but at a slower rate compared to classic ALS. Upper motor neuron clinical signs are variable, but transcortical magnetic stimulation paradigms and magnetic resonance imaging tractography support upper motor neuron loss. Tests of the split hand pattern show it is rare compared to ALS. Dementia is also rare. Genetic testing supports a spectrum of ALS-related gene mutations but at a lower frequency than with classic ALS, and no gene mutation is predominant. Diagnosis requires ~2 years of regional stability to predict the better prognosis for the flail limb syndromes.

We present the case of a 78-year-old woman with metabolic syndrome and a history of multiple ischemic strokes who developed progressive symmetrical proximal muscle weakness, predominantly affecting the lower extremities, while on atorvastatin. Laboratory evaluation revealed markedly elevated creatine kinase (CK) and positive anti-HMG-CoA reductase (anti-HMGCR) antibodies, with MRI confirming myositis consistent with statin-induced necrotizing autoimmune myopathy (SINAM). Despite statin discontinuation and immunosuppressive treatment, her muscle weakness persisted, and she remained bedbound at long-term follow-up. This case underscores the diagnostic and therapeutic challenges of SINAM in elderly patients with significant comorbidities and highlights the importance of early recognition and tailored management.

Spinal muscular atrophy type 4 (SMA‑4) represents a rare, late‑onset motor neuronopathy with insidious proximal limb weakness and preserved walking ability. Its slow progression and vague initial symptoms often cause years of diagnostic uncertainty. We describe a 38‑year‑old man who experienced slowly worsening, fatigue‑related proximal leg weakness over three years. Initial suspicion fell on a metabolic myopathy, and later, lumbar spine magnetic resonance imaging (MRI) showed multilevel degenerative changes with canal stenosis, findings that were initially attributed to the cause but did not align with the clinical picture. Crucially, the patient's younger brother had already received a genetic diagnosis of SMA‑4. Nerve conduction studies were normal. Needle electromyography (EMG) revealed widespread chronic partial denervation with reinnervation, yet the paraspinal muscles remained electrically silent, a pattern that localizes the lesion to the anterior horn cell. Genetic testing subsequently confirmed homozygous deletion of SMN1 exon 7. This report highlights how incidental imaging abnormalities can confound the diagnostic process and underscores the importance of systematic clinical‑electrodiagnostic‑genetic correlation in adult‑onset proximal weakness, particularly in the era of available disease‑modifying therapies.

Dermatomyositis (DM) is an idiopathic inflammatory myopathy marked by proximal muscle weakness and pathognomonic rashes such as heliotrope rash and Gottron papules. DM is associated with an increased risk of malignancy compared to the general population, with 15-30% of cases being paraneoplastic. DM-associated malignancies are often diagnosed at late stages, resulting in cancer being a leading cause of death in this condition. Additionally, DM can mask malignancy by presenting with similar symptoms as the inciting cancer, further emphasizing the importance of early, disease-specific cancer screening. We report a 51-year-old woman with refractory DM presenting with muscle weakness, cutaneous lesions, and dysphagia. Lab tests showed elevated creatine kinase, positive ANA, and negative anti-Jo-1; muscle biopsy confirmed DM. Despite treatment for DM, her symptoms persisted. After complaints of worsening dysphagia, subsequent imaging, endoscopy, and biopsy revealed gastroesophageal junction (GEJ) adenocarcinoma. After receiving immunosuppressive treatment, the patient developed Pseudomonas pneumonia. Unable to recover, she rapidly declined and died in mid-April 2025. This case emphasizes the need for early myositis-specific malignancy screening in new-onset DM, particularly when systemic or gastrointestinal symptoms are present. This will enable timely diagnosis and improve patient outcomes. Paraneoplastic DM often carries a more aggressive course, and while gastrointestinal (GI) cancers are highly associated with the disease, association with GEJ adenocarcinoma is rare. A high index of suspicion for malignancy should be maintained in new-onset DM, especially when systemic symptoms are present. Early malignancy screening tailored to myositis-associated malignancies at the time of diagnosis is critical to improve prognosis and facilitate timely intervention in this life-threatening paraneoplastic syndrome.