The Association of Long Thoracic Nerve Variants With Medial Scapular Winging in Thoracic Outlet Syndrome: A Clinical and Anatomical Study.

We report clinical and genetic profile of 10 patients with Late-onset Pompe disease (LOPD) from Western India, diagnosed over 26 years from a cohort of 2374 myopathy cases. Diagnostic modalities evolved from muscle biopsy to enzyme assays and genetic sequencing. The predominant phenotype was limb-girdle weakness; rare features included facial weakness and scapular winging. The c.1841C>T (p.T614M) variant was most common, while the globally prevalent c.-32-13T>G variant was reported for the first time in India. A persistent diagnostic delay averaging six years highlights the need for increased clinician awareness to facilitate timely identification and treatment of this treatable disease.

Neuromuscular diseases can present with acute respiratory failure with no other symptoms. A 30-year-old woman presented with progressive dyspnoea, culminating in respiratory failure requiring critical care admission for non-invasive ventilation. On examination, she had proximal and distal muscle weakness with bilateral scapular winging. An MR scan of the muscle showed selective fatty replacement in the semitendinosus, tibialis anterior and peroneus longus muscles. Muscle biopsy identified rimmed vacuoles, core-like structures and desmin-positive aggregates. Genetic testing identified a novel heterozygous missense mutation (c.95350G>A, p.Ala31784Thr) in the fibronectin type-III 119 domain of the TTN gene, leading to the diagnosis of hereditary myopathy with early respiratory failure (HMERF). Her muscle weakness has since progressed over 3 years, and she still depends on non-invasive ventilation. Clinicians should consider HMERF in adults presenting with unexplained respiratory failure.

BACKGROUND: Diagnosing the cause of scapular winging can be difficult, often requiring a systematic clinical examination and electrodiagnostic testing. Long thoracic nerve (LTN) palsy is often suspected and must be ruled out. CASE PRESENTATION: A 26-year-old male sustained a posterior labral tear and subsequent posterior labral repair. He reinjured his shoulder and examination revealed significant scapular winging and signs of posterior instability. Electrodiagnostic testing impression was positive for a LTN palsy. He was to undergo a pectoral muscle transfer, but a thorough scapular muscle examination revealed full serratus activity. Electromyography evaluation was performed without and with cueing, demonstrating minimal and normal serratus activity, respectively. OUTCOME AND FOLLOW-UP: The patient gained serratus anterior control and was spared from unnecessary surgery. DISCUSSION: Despite findings on electrodiagnostic testing suggesting LTN, a thorough examination was able to elucidate that this patient’s scapular winging was due to serratus anterior inhibition. A specific examination algorithm can improve diagnostic accuracy.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by scapulo-humero-peroneal muscle weakness, joint contractures, and cardiomyopathy. EDMD5 is an uncommon subtype caused by SYNE2 gene mutations. A 49-year-old male presented with lifelong difficulty running and rising from a squat. Examination revealed mild proximal lower limb weakness and bilateral winged scapula with left-sided predominance. Electromyography showed motor unit action potentials of reduced amplitude and short duration. Muscle biopsy indicated fiber atrophy with preserved staining for key muscular proteins. The findings in this case illustrate that clinical severity in EDMD5 may vary among individuals, as shown by the presence of mild weakness and a winged scapula.

Background/Objectives: Scapular adaptations have been associated with shoulder pain. However, conflicting findings have been reported after scapular-focused interventions. The present study aims to evaluate scapula-related outcomes before and after a scapular therapeutic exercise program. Methods: Eighteen adult volunteers with chronic shoulder pain participated in an 8-week scapular therapeutic exercise program that was personalized according to their pain condition and the presence of scapular dyskinesis. This program included preparation and warm-up, scapular neuromotor control, and strengthening and stretching exercises. Both self-reported (shoulder pain and function, psychosocial factors, and self-impression of change) and performance-based outcomes (scapular muscular stiffness and activity level, tridimensional motion, rhythm, and movement quality, measured while participants drank a bottle of water) were used for analysis. Results: After the intervention, participants presented reduced shoulder pain (p < 0.0001) and pain catastrophizing (p = 0.004) and increased shoulder function (p < 0.0001). Additionally, the participants presented changes in scapular winging (p < 0.0001 to p = 0.043), increased scapular downward rotation (p < 0.0001) and depression (p = 0.038), and decreased global movement smoothness (p = 0.003). These were associated with changes in serratus anterior activity (p = 0.016 to p = 0.035), decreased middle (p < 0.0001 to p = 0.002) and lower trapezius (p < 0.0001) and levator scapulae (p = 0.048) activity levels, and decreased middle trapezius muscle stiffness (p = 0.014). Patients’ self-perception of change was rated favorably. Conclusions: After a scapular therapeutic exercise program, changes were observed in both self-reported and performance-based outcomes. These results need to be confirmed by a randomized controlled trial.

Sprengel shoulder is a rare congenital anomaly caused by disrupted scapular descent during development. It is associated with hypoplastic or absent muscles such as the trapezius, sternocleidomastoid, and serratus anterior, leading to scapular winging. Cavendish grading classifies the severity as very mild, mild, moderate, or severe. Mild cases may appear normal under clothing, while severe cases feature significant elevation, neck webbing, and brevicollis. One-third of cases have an omovertebral bone. Diagnosis is made through chest and shoulder radiography. Treatment is non-operative for mild cases, while moderate to severe cases require early surgical correction to prevent movement restriction. Sprengel shoulder is linked to conditions such as Klippel-Feil Syndrome (KFS), Poland syndrome, and VATER association, necessitating multidisciplinary evaluation. In this case report, a three-year-old girl presented with left shoulder elevation and restricted movement. Prenatal history revealed left renal agenesis. Examination showed an elevated left shoulder, restricted abduction, and apparent limb shortening. A typical Sprengel deformity with an omovertebral bone was diagnosed with the help of Magnetic Resonance Imaging (MRI). The Modified Excision and Reconstruction of Scapula (MEARS) procedure was planned, to improve mobility and quality of life for this patient. Additional evaluation was planned due to associated features such as a low hairline, vertebral fusion anomalies, and spina bifida, suggesting a possible genetic syndrome, most likely KFS. The rarity of Sprengel shoulder with an omovertebral bone and unilateral renal agenesis prompted this report.

Scapular winging is a rare disorder that causes functional limitation of the upper extremity. It may develop due to many pathological conditions that can cause paralysis in the serratus anterior, trapezius and rhomboid muscles (which are innervated by the long thoracic nerve, spinal accessory nerve and dorsal scapular nerve, respectively). Diagnosis is made by imaging and electrodiagnostic studies after physical examination. In this case, it is aimed to present the diagnosis and treatment stages of the patient who developed shoulder pain, muscle weakness and scapular winging, due to injury to the spinal sccessory nerve, which is the 11th cranial nerve and provides pure motor innervation to the trapezius muscle. Although scapular winging is not a condition we frequently encounter in clinical practice, it is important due to its potential for disability that may affect the quality of life.

Patient: Female, 45-year-oldFinal Diagnosis: Chronic lymphocytic leukemiaSymptoms: sided neck pain • neck swelling • shoulder restrictionClinical Procedure: —Specialty: Hematology • Orthopedics and Traumatology • OtolaryngologyObjective: Unusual clinical courseBackgroundChronic lymphocytic leukemia is the most common leukemia affecting adults, classically presenting with painless lymphadenopathy or diagnosed incidentally on routine full blood count. Neurological complications rarely arise in chronic lymphocytic leukemia and the underlying causes for such complications remain poorly understood. Cranial nerve involvement is uncommon and there are currently no reported cases of accessory nerve palsy as the first presentation of chronic lymphocytic leukemia.Case ReportA woman in her 40s presented with a 4-week history of left-sided neck swelling and pain associated with left shoulder restriction. Left trapezius weakness and scapular winging was found on examination, consistent with a left accessory nerve palsy. Examination also revealed multiple tender lymph nodes in the left posterior triangle of the neck. Investigations included a staging CT scan, flexible nasendoscopy, nerve conduction studies, and a full blood count showing lymphocytosis. A work-up involving Ear, Nose, and Throat Surgery, Hematology, and Orthopedic Surgery led to the diagnosis of chronic lymphocytic leukemia. There was no evidence of Richter’s transformation. A multidisciplinary team approach was used to treat the patient, and there was complete resolution of her neurological symptoms on follow-up.ConclusionsThis report describes an unusual first presentation of chronic lymphocytic leukemia. It serves as a reminder to consider hematological malignancies in cases of accessory nerve palsy associated with a neck swelling. Early input from Hematology and multidisciplinary involvement can aid early diagnosis and prevent unnecessary investigations. Further research is warranted to explore the neurological spectrum of CLL.

Scapular winging caused by paralysis of the rhomboid muscle is a relatively uncommon condition in shoulder outpatient. Despite the paucity, it presents as a debilitating condition with sequelae of poor function and deconditioning. Reinforcement reconstruction and restoring the rhomboid muscle dynamic presents a biomechanical treatment option for patients because of paralyzed rhomboids. Building upon our previous research demonstrating successful myointegration of autologous fascia lata grafts, we introduce an innovative reconstruction surgical technique utilizing these grafts to address rhomboid muscle paralysis. We performed reinforcement reconstruction using fascia lata autograft on a patient for painful scapular winging caused by paralyzed rhomboids and aimed to achieve a normal rhythm of the scapulothoracic joint. The procedure achieved functional restoration and scapular stabilization through reinforcement reconstruction. Postoperative assessment at 6 weeks revealed a full shoulder range of motion, absence of scapulothoracic discomfort, and resolution of scapular winging confirmed by clinical testing. This advancement provides shoulder orthopedic surgeons with a novel biomechanical solution for managing refractory scapular winging.

ABSTRACT Winged scapula (WS) is characterized by the medial and/or inferior border of the scapula protruding from the thoracic wall. The aetiologies include sports activities, trauma, surgical complications, infections and muscular dystrophies. In our study, we aim to describe the electrophysiological and clinical features of patients referred to our clinic with a preliminary diagnosis of winged scapula and to identify the causes of WS. Between 2009 and 2021, a retrospective analysis was performed of the neurophysiological studies and clinical data of patients who presented with a preliminary diagnosis of winged scapula, long thoracic nerve and/or accessory nerve lesions. Of the 81 patients examined, 27 were found to have nerve damage. A retrospective review of the medical history of these 27 patients revealed that 37% (11 patients) had sports-related injuries as the cause of scapular winging. In addition, scapular winging was found in 4% (1 patient) due to heavy lifting without regular sport activity. We found that 80% of patients with sports-related injuries had a history of weightlifting. This study presents a relatively large number of patients with winged scapula. It was found that weightlifting and bodybuilding in particular play a significant role in the aetiology of WS.

BACKGROUND: Facioscapulohumeral Muscular Dystrophy (FSHMD) is a genetic disorder affecting muscles of the face, shoulder girdle, and abdomen, leading to variable muscle weakness and functional impairment. CASE PRESENTATION: This case series describes three patients with FSHMD. case 1 involved a 22-year-old female with suspected bilateral shoulder instability. case 2 was a 21-year-old male with bilateral trapezius atrophy post-skiing injury. case 3 was a 19-year-old female with significant bilateral scapular winging. OUTCOME AND FOLLOW-UP: The presence of significant bilateral weakness of the serratus anterior, trapezius or both led the clinician to suspected FSHMD and refer for further follow up. DISCUSSION: The cases highlight the variability in FSHMD presentation and the importance of early diagnosis and referral. Misdiagnosis is common due to overlapping symptoms with other conditions, such as long thoracic nerve (LTN) palsy or spinal accessory nerve (SAN) palsy.

Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy.

Transfer of the sternal head of the pectoralis major tendon to the inferior pole of the scapula is a well-known intervention for symptomatic medial scapular winging. Axillary approach has not been well represented in the literature but offers similar functional outcomes with improved cosmetics. In this retrospective review, seven patients with chronic medial scapular winging underwent pectoralis major tendon via axillary approach at a single academic institution. Six of the seven patients had improved function, range of motion, and scapular winging. Transfer of the sternal head of the pectoralis major tendon to the inferior pole of the scapula via an axillary approach is a safe and effective option for scapular winging reconstruction with the advantage of direct visualization of neurovascular structures and improved cosmesis. (Journal of Surgical Orthopaedic Advances 34(2):055-058, 2025).

Split pectoralis major tendon (PMT) transfer is effective at treating persistent medial scapular winging refractory to conservative management. The primary indication for a PMT transfer is scapular winging secondary to serratus anterior palsy caused by long thoracic nerve injury. In this case, the patient is a 22-year-old male with years of symptoms that interfere with his activities of daily living and ability to play recreational basketball. The patient was placed in a semi-supine position. The deltopectoral interval was identified and dissected. The sternal head of the pectoralis major was isolated and tagged, and a tenotomy was then performed. An Achilles allograft was prepared in a sterile fashion and secured to the pectoralis tendon using multiple heavy nonabsorbable sutures. A scapular incision was made to identify the inferior angle of the scapula. A bone tunnel was created, and the allograft was shuttled through the aperture and tensioned into place. Split PMT transfer is associated with improved pain scores and functional outcomes, while offering a lower complication rate than other surgical techniques. Patient satisfaction is high; 80% of patients would recommend the surgery. The patient in this case is now 16 weeks post-surgery and reports 0 out of 10 pain. This technique study demonstrates that split PMT transfer with Achilles allograft augmentation is a viable treatment option for patients with persistent scapular winging. The author(s) attests that consent has been obtained from any patient(s) appearing in this publication. If the individual may be identifiable, the author(s) has included a statement of release or other written form of approval from the patient(s) with this submission for publication.

Limb-girdle muscular dystrophy Type 2A/R1 or calpain-3 deficiency is the most common autosomal recessive limb-girdle muscular dystrophy. However, in recent years, autosomal dominant cases and families with calpain-3 deficiency have been reported, and there is an emerging interest in looking for single variants in the calpain-3 gene in mildly to moderately affected patients with limb-girdle muscular dystrophy without biallelic gene variants in CAPN3. Here, we report four cases with creatine kinase levels above 1500 U/L, mild-to-moderate proximal weakness, waddling gait, and scapular winging. Two patients, a son and his father, are heterozygous for the CAPN3 variant c.304C>T; p.(Pro102Ser), which has previously been reported in patients with compound heterozygous variants in CAPN3. The third and fourth patients were heterozygous for c.1371C>G; p.(Asn457Lys) and c.1490C>T; p.Ala497_Glu508del, respectively, neither of which has been reported before. All four patients had a near-complete loss of calpain-3 as determined by western blotting. While inherited autosomal dominant calpainopathy has now been firmly established, additional single cases of dominant calpainopathy are likely to emerge; some will be associated with clinical findings from parents or siblings, while others will arise from spontaneous mutations, but nevertheless with similar clinical findings of mild-to-moderate proximal weakness, increased level of creatine kinase, and near-complete loss of calpain-3 protein in affected individuals. This report expands the known number of variants causing dominant calpainopathy from 8 to 11 that appears to exclusively reside in two out of four domains that make up calpain-3. This information could aid in determining whether a CAPN3 variant of unknown significance is pathological.

Defining a Danger Zone for Iatrogenic Long Thoracic Nerve Injury in Gender-Affirming Mastectomy

Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of neuromuscular disorders characterized by progressive proximal muscle weakness and varying patterns of scapular winging. Accurate subtype identification is often hindered by diagnostic complexities and limited access to advanced diagnostic tools, particularly in resource-constrained settings. We present the case of a 38-year-old male with a 10-year history of progressive upper limb weakness, scapular winging, and persistent fatigue. Electromyography (EMG) revealed a myopathic pattern, supporting the clinical suspicion of LGMD. Muscle biopsy and genetic testing were not performed due to patient unwillingness and financial limitations. A multidisciplinary management approach comprising low-dose corticosteroids, physiotherapy, and nutritional support led to symptomatic improvement and enhanced functional capabilities. This case underscores the diagnostic challenges posed by the absence of advanced genetic and histopathological investigations and highlights the importance of accessible, patient-centered care. Scapular winging and proximal weakness were pivotal diagnostic features in this case, reflecting the hallmark manifestations of LGMD. The observed improvement with physiotherapy and corticosteroids demonstrates the value of a tailored management strategy in mitigating the impact of this progressive condition. This case emphasizes the need for broader access to diagnostic innovations and advanced therapeutic options to optimize care for patients with rare neuromuscular disorders.

Arthroscopic Long Thoracic Nerve Decompression for Painful Scapulothoracic Abnormal Motion: Technique and Indications

Marfan Syndrome, an autosomal dominant, generalized disorder affecting the connective tissue, caused by mutations of FBN 1 gene which leads to deficiency of fibrillin 1 leading to reduced microfibril formation and disrupts the mechanical integrity of connective tissue, presents a complex clinical picture affecting multiple systems, poses significant challenges to conventional management. We present an 18-year-old female with Marfan Syndrome, highlighting her clinical features such as thin and slender body with disproportionately long arms and legs as compared with the trunk, bilateral Ectopia lentis, Arachnodactyly, positive Walker Murdoch Wrist sign and positive Steinberg Thumb sign, bilateral Pes planus, asymmetrical chest with mild Pectus carinatum deformity and moderate degree of Kyphoscoliosis along with winging of scapula. This article explores the Ayurvedic concept of Beeja dosha and highlights the value of integrating Ayurvedic insights into the management of Marfan Syndrome, offering a holistic and personalized approach to patient care to improve the quality of life and aims to deepen understanding of Marfan Syndrome from an Ayurvedic perspective, laying the groundwork for future research into Ayurvedic management strategies.