A rare cause of proximal muscle weakness: immune necrotising myopathy.

Background Immune-mediated necrotising myopathies are characterised clinically by the subacute onset of proximal limb weakness, accompanied by elevated creatinine kinase levels. They are distinguished from other myopathies by the absence of prominent infiltration of the muscle with inflammatory cells in the biopsies. Case presentation A 44-year-old man presented with upper extremity weakness and dysphagia. Laboratory tests included a creatinine kinase level of 4362 U/L (normal: 52-336 U/L). Rheumatological markers were all negative. A muscle biopsy showed multiple necrotic fibres with minimal inflammatory infiltration. One gram of methylprednisolone (IV) was given, followed by 1 mg/kg of methylprednisolone daily by the oral route. Intravenous immunoglobulin (0.4 mg/kg/day) was given for five days. Muscle weakness regressed and dysphagia disappeared with treatment. The patient remains well in the 23rd month of treatment, taking 5 mg/day prednisolone and monthly intravenous immunoglobulin. Conclusion Treatment of immune-mediated necrotising myopathy can be challenging as evidence-based therapeutic options are limited. It is generally accepted that early and extensive immunosuppression, including glucocorticoids as first-line agents, may be required.

Proximal muscle weakness as a result of osteomalacia associated with celiac disease: a case report.

UNLABELLED: A 24-year-old woman suffering from back and hip pain with difficulty in walking was reported. She had proximal muscle weakness. Laboratory findings led to the diagnosis of osteomalacia. Positivity of antibodies strengthened suspicion of celiac disease. In patients with proximal muscle weakness, osteomalacia should be considered in differential diagnosis even in a young woman. INTRODUCTION: A 24-year-old woman suffering from back pain, bilateral hip pain, and difficulty in walking was reported. Her symptoms had started in the first trimester of pregnancy. METHODS: In her physical examination, proximal muscle weakness and waddling gait pattern were determined. Her lumbar spine and hip MRI revealed no obvious pathological findings. Electromyography showed a myophatic pattern. RESULTS: Physical examination, normal values of creatine kinase, and muscle biopsy were supplied to exclude the diagnosis of primer muscle diseases. Laboratory findings led to the diagnosis of osteomalacia with normal renal function. Gastrointestinal symptoms and positivity of anti-gliadin and anti-endomysium antibodies strengthened the suspicion of celiac disease as a cause of the osteomalacia. The diagnosis of celiac disease was confirmed with duodenal mucosal biopsy. CONCLUSION: In patients with proximal muscle weakness and waddling gait pattern, osteomalacia should be considered in differential diagnosis even in a young woman and underlying disease should be investigated.

Late adult-onset of X-linked myopathy with excessive autophagy.

INTRODUCTION: X-linked myopathy with excessive autophagy (XMEA) is characterized by autophagic vacuoles with sarcolemmal features. Mutations in VMA21 result in insufficient lysosome acidification, causing progressive proximal weakness with onset before age 20 years and loss of ambulation by middle age. METHODS: We describe a patient with onset of slowly progressive proximal weakness of the lower limbs after age 50, who maintains ambulation with the assistance of a cane at age 71. RESULTS: Muscle biopsy at age 66 showed complex muscle fiber splitting, internalized capillaries, and vacuolar changes characteristic of autophagic vacuolar myopathy. Vacuoles stained positive for sarcolemmal proteins, LAMP2, and complement C5b-9. Ultrastructural evaluation further revealed basal lamina reduplication and extensive autophagosome extrusion. Sanger sequencing identified a known pathologic splice site mutation in VMA21 (c.164-7T>G). CONCLUSIONS: This case expands the clinical phenotype of XMEA and suggests VMA21 sequencing be considered in evaluating men with LAMP2-positive autophagic vacuolar myopathy.

Imatinib-induced dermatomyositis sine dermatitis - a rare case report.

Idiopathic Inflammatory Myopathies are rare conditions with several heterogeneous disease subtypes. They can range from limited muscle or skin involvement to severe, systemic, life-threatening disease. Although the etiology is unknown, some evidence suggests a role for external agents, particularly drugs. Herein, we present a case of a 71-year-old woman with chronic myeloid leukemia who developed imatinib-induced dermatomyositis sine dermatitis. The presentation was predominantly muscular, characterized by proximal muscle weakness and myalgia of the lower limbs, with positive anti-Mi2a antibodies. Spontaneous recovery was observed after drug discontinuation, without the need for immunosuppressive therapy. This is the first confirmed description of an imatinib-induced dermatomyositis sine dermatitis. It reflects the importance of a high awareness from rheumatologists and hematologists to accurately anticipate and identify similar situations.

Anti-HMGCR (Hydroxy-3-Methylglutaryl-CoA Reductase) Myopathy: A Rare Cause of Proximal Muscle Weakness.

Idiopathic inflammatory myopathy (IIM) represents a rare group of autoimmune conditions resulting in muscle weakness and includes polymyositis, dermatomyositis, immune-mediated necrotizing myopathy (IMNM), overlap myositis, and inclusion body myositis. Anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) antibody IMNM represents a rare but increasingly recognized subtype of IIM. Here we report a case of a 65-year-old woman on rosuvastatin who presented with two months of progressive proximal muscle weakness, significant truncal weakness, and elevated creatine kinase concerning for rhabdomyolysis and inflammatory myopathy. The patient was eventually diagnosed on day 8 of her hospital stay with anti-HMGCR antibody IMNM after delayed testing for this specific myopathy. Increased awareness of this IIM subtype, as well as its risk factors and presenting features, might improve rapidity of testing and shorten hospital stays if the diagnosis is considered in the emergency department or early in the hospital course.

Management of a 25-Year-Old Female Patient With Limb-Girdle Muscular Dystrophy With Physiotherapy: A Case Report.

Limb-girdle muscular dystrophy (LGMD) is a collection of neuromuscular diseases that develop gradually and are rare, genetically, and clinically diverse. The weakness in muscles affecting the shoulder and pelvic girdles is a defining feature of LGMD. Calpainopathy is another name for limb-girdle muscular dystrophy type 2A (LGMD2A). Limb-girdle muscular dystrophy type 2A results from alterations in the calpain-3 (CAPN3) gene, which results in a CAPN3 protein shortage. Gower's sign is most commonly found in LGMD2A. The prevalence ranges from one person in every 14,500 to one in every 123,000. We present a case of a 25-year-old hypotensive female patient who complained of weakness in all four limbs and easy fatigue with a positive Gower's sign. For subsequent management, the neurologist referred the patient to the physical therapy department. The physical therapy goals included enhanced muscle strength, increased joint mobility, reduced fatigue, normalizing gait, and building dynamic balance and postural stability. Diagnosing LGMD clinical variability is important, emphasizing the importance of precise subtype identification and tailoring therapy. Tackling specific muscular deficits and functional restrictions emerges as a critical component in the holistic care of LGMD by physiotherapists. Continuous monitoring and evaluation using appropriate scales and measurements are essential for tracking performance and tailoring treatment strategies. Regular follow-up consultations with the physiotherapist are needed to identify changes in an individual's health and alter the treatment plan accordingly.

An Unusual Presentation of Juvenile Polymyositis in an Adolescent Girl.

Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of diverse, systemic autoimmune diseases that manifest in childhood and are characterized by weakness and chronic inflammation of skeletal muscles. One of the relatively rare variants of JIIMs is juvenile polymyositis (JPM). JPM patients present with proximal and distal muscle weakness, gait instability with falls, muscle pain and tenderness, and high levels of creatine kinase (CK) during adolescence. There are currently few people being diagnosed with JPM, which raises the question of whether or not it is a distinct disease. We discuss the case of a 13-year-old girl who presented to the hospital with generalized body swelling and difficulty swallowing solid food. She also had drooling of saliva during the presentation and a history of difficulty climbing up and down the stairs for three months. Her extensive laboratory workup showed a positive antinuclear antibody (ANA) test and increased muscle enzyme. A muscle biopsy was ordered, and she was diagnosed with JPM. Such a unique presentation has rarely been reported in the pediatric literature. This case report outlines an unusual JPM presentation that could help clinicians identify the condition and start treatment as soon as possible to minimize complications.

Antineutrophil cytoplasmic antibody-associated vasculitis with predominant truncal muscle weakness: a retrospective case series.

Introduction: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) frequently leads to mononeuritis multiplex, which are characterized by distal weakness associated with sensory disturbances. Although AAV has also been reported to be associated with myopathy, the pathogenesis and characteristics remain unclear. We aimed to show the clinical and laboratory findings in AAV-associated myopathy. Methods: This retrospective single-center study included patients with the diagnosis of AAV who had been admitted to the neurology department and had biopsy specimens of muscle and/or nerve tissue. Results: We identified four patients with a distinct clinical presentation of muscle weakness in the trunk and proximal limbs. The weakness resembled that of inflammatory muscle disease. These patients denied symptoms associated with neuropathy, and had normal serum creatine kinase (CK) levels. Needle electromyography (needle EMG) showed spontaneous electrical activity at rest, and results of magnetic resonance imaging (MRI) suggested inflammatory myopathy. Muscle biopsy specimens from all four patients revealed vasculitis and inflammation in proximity to the affected vessels, without any discernible characteristics of other myopathies. The patients also complained of symptoms affecting other organs, such as the ears and kidneys, which is typical of AAV cases. Remission induction therapy, such as cyclophosphamide pulse therapy in addition to oral prednisolone, were effective for all four patients. However, relapses occurred in two patients during maintenance therapy and two patients died of aspiration pneumonia. Discussion: The clinical course of our patients might represent a subtype of AAV that is characterized by muscle weakness of the trunk and proximal extremities and arises from vasculitis within the muscles. The clinical manifestations of our patients were similar to those of patients with inflammatory myopathy with regard to the distribution of muscle weakness, MRI and needle EMG findings. However, there are notable differences between AAV associated myopathy vs. inflammatory myositis like dermatomyositis; (1) the absence of elevated CK levels, (2) the presence of complications in other organs, (3) distinct pathological findings, and (4) severe outcomes. Awareness that AAV patients with muscle involvement could have a subtype of AAV that seriously affects various organs is critical for an accurate diagnosis and effective therapeutic management.

Overlap Syndrome in a Male Presenting With Progressive Lower Limb Weakness: A Case Report.

Overlap syndrome refers to a large group of inflammatory rheumatic conditions characterized by the co-existence of clinical manifestations that include different organ systems and meet the criteria of more than one rheumatic disease. Overlap syndromes are less common compared with the conditions they encompass, for example, the global prevalence of systemic lupus erythematosus (SLE) is estimated to be 43.7 per 100,000 persons, of which only around 3.4-6.3% present with SLE-myositis overlap. Although rare, overlap syndromes commonly include lupus, rheumatoid arthritis, scleroderma, and myositis. Because overlap syndrome can manifest in several ways and has an unpredictable course, it poses a challenge to multidisciplinary teams that examine and treat patients. Therefore, we must not disregard any signs and symptoms as they might have a huge impact on the progression of the disease and the overall outcome of the treatment. We present a rare case of SLE-myositis overlap syndrome in a 44-year-old male. He initially presented with gradual weakness in the proximal muscles of the bilateral lower limb. This patient was diagnosed as having SLE with positive 5g protein/24 hours, anti-nuclear, low C3, anti-U1RNP, anti-Ro, and anti-La antibodies, as well as membranous lupus nephritis evident by the results of renal biopsy. The diagnosis of myositis was also made according to the history and evaluation of the patient, the high titer of muscle enzymes creatine kinase level, and MRI result. Although the patient tested positive for anti-U1RNP, he did not meet the criteria of mixed connective tissue disease. Eventually, the patient was found to have overlap syndrome. The prevalence of overlap between SLE and myositis is relatively rare and varies from 3.4% to 6.3%. To our knowledge, no study has discussed or reported its prevalence among males.

Duchenne Muscular Dystrophy Presenting as Incidental Hyper-Transaminasasemia in a Two-Month-Old Male.

Duchenne's muscular dystrophy (DMD) is a debilitating X-linked recessive disorder of dystrophin gene expression that culminates in the downregulation of dystrophin in cardiac and skeletal muscle. As a result, there is progressive muscle weakness, fibrosis, and atrophy. The skeletal and cardiac muscle degeneration rapidly progresses to the respective loss of ambulation and death from cardiac muscle failure by the second and fourth decades of life. Although muscle degeneration has been demonstrated in utero patients are initially asymptomatic. Therefore, diagnosis is typically delayed until about five years of age when proximal muscle weakness initiates a diagnostic workup that uncovers the disease. We present the rare case of an early diagnosis of DMD. A two-month-old, the only male offspring of a family with three children, was discovered to have hyper-transaminisemia during hospitalization for pneumonia. His preceding medical history was only significant for fever, cough, and rhinorrhea. The pregnancy and birth were uneventful. No abnormalities were detected on the newborn screen. Physical examination was reassuring with no peripheral stigmata of liver disease. Ultrasonographic assessments, metabolic assays, and infectious disease markers were within normal limits. Creatine kinase (CK) was markedly elevated and our patient was subsequently confirmed to be positive for a pathogenic hemizygous variant of the DMD gene.  Reliance on an abnormal clinical presentation to trigger diagnostic workup for DMD has led to delays in the diagnosis of this genetic disorder. Incorporating CK analysis into newborn screening panels may enable more children to commence workup in infancy rather than at the current average age of 4.9 years. Early diagnosis is of value in the early initiation of monitoring, anticipatory guidance, and availing families' opportunities to harness current trends of care.

A Rare Case of PL-7-Associated Immune-Mediated Necrotizing Myopathy With Isolated Dysphagia as the Presenting Symptom.

Immune-mediated necrotizing myopathy (IMNM) is a rare, progressive disease that accounts for about 19% of all inflammatory myopathies. Dysphagia occurs in about 20%-30% of IMNM patients. This case results in the third presumptive instance of IMNMwith dysphagia as the initial symptom. Given that isolated dysphagia in IMNM is atypical to the conventional symptoms in the late stage of the disease, it is critical for clinicians to have a high degree of suspicion for IMNM due to the aggressive nature of the disease and its refractoriness to treatment. Additionally, this case also highlights an atypical autoantibody, PL-7, being positive in an IMNM patient who presents with dysphagia as an initial symptom.

Clinical Characteristics and Course of Patients with Juvenile Dermatomyositis - Case Series.

Background: Juvenile dermatomyositis (JDM) is one of the commonest forms of inflammatory myositis in childhood. Objective: The objective study was to study the clinical characteristics and course of JDM patients. Material and Methods: Retrospective analysis of the charts of 25 JDM patients admitted to two hospitals in Bangalore from March 2011 to July 2017. Results: The mean age at onset of disease was 7.74 ± 3.74 years. The male to female ratio was 1.5:1. All patients had skin rashes typical of JDM and 24/25 had demonstrable muscle weakness. Six patients were either lost to follow-up or died. Of the remaining 19 patients, 11 (57.9%) had a monocyclic course, 5 (26.3%) patients had a chronic continuous course, and 3 (15.8%) patients had a polycyclic course. Conclusions: JDM though rare should always be considered in the differential diagnosis in any child with skin rash and muscle pains and weakness. When diagnosed early and treated appropriately, sustained remission without medications is possible in a good proportion of patients.

Early Recognition and Successful Treatment of Anti-synthetase Syndrome.

Anti-synthetase syndrome is an autoimmune disorder that is characterized by inflammatory myopathy, non-erosive polyarthritis, interstitial lung disease in addition to the presence of anti-aminoacyl t-RNA synthetase antibody. It can have variable presentations posing a major diagnostic challenge. Recognition of this syndrome is crucial for appropriate, timely therapy to prevent morbidity and mortality. We report the case of a 55-year-old male who initially presented to the emergency department (ED) with sudden onset shortness of breath, low-grade fever, dry cough, fatigue, and severe arthralgia. He was diagnosed with community-acquired pneumonia and was discharged with antibiotics. He then presented to his primary care physician (PCP) with worsening symptoms. A computed tomography (CT) scan of the chest showed the presence of patchy bilateral airspace opacities and infiltrates. He had elevated inflammatory markers and anti-nuclear antibodies (ANAs). Pulmonary function test (PFT) showed a restrictive pattern with a reduction in lung volumes. Further workup revealed the presence of anti-Jo-1 antibodies. In addition, a muscle biopsy was obtained which showed inflammatory myopathy. Lung biopsy was consistent with interstitial fibrosis. The diagnosis of the anti-synthetase syndrome was made and the patient was promptly started on high-dose prednisone and cyclophosphamide which was later switched to azathioprine and tacrolimus due to resistance and side effects. The patient's symptoms improved significantly with the current treatment without any other complications. This case highlights the importance of a thorough history and physical exam by PCP. Prompt communication and care coordination between PCP and specialists (rheumatologist and pulmonologist) are essential to expedite diagnostic testing and initiate treatment early in this disorder.

ANCA-associated vasculitis and severe proximal muscle weakness.

ANCA-associated vasculitis is a multiorgan autoimmune inflammatory disease that has a heterogeneous clinical presentation. Our case report provides additional evidence supporting the association between granulomatosis with polyangiitis and myositis. In our patient with proximal muscle weakness and pain, a normal creatine kinase and lack of antibodies to muscular fiber units ruled out primary myositis. Distinct magnetic resonance imaging of the brain within the deep gray matter in addition to positive serologies were consistent with a diagnosis of granulomatosis with polyangiitis. ANCA-associated vasculitis, specifically granulomatosis with polyangiitis, may be overlooked if musculoskeletal manifestations are the presenting symptoms. Prompt and aggressive treatment prevented this patient from experiencing multiorgan failure.

It's All Due to the Thyroid: Lessons Learnt From a Patient's Perspective.

Symptoms associated with thyroid pathology can mimic and overlap with a myriad of other diagnostic possibilities. Based on the patient's educational status, underlying fear, anxiety, online medical search, the patient can erroneously attribute various symptoms to thyroid pathology. We present a case of a 79-year-old female with a history of Hashimoto's hypothyroidism, meningioma, who erroneously attributed many of her symptoms to hypothyroidism despite having normal thyroid labs. The patient had symptoms of fatigue, dysphagia, and proximal muscle weakness. Surprisingly the patient already had an existing diagnosis of dermatomyositis and Zenker's diverticulum which could clearly explain her above symptoms. Moreover, the patient did not follow up for whole body scan and other tests that were ordered for cancer screening, which is the standard practice for dermatomyositis. The patient helped us identify the deficiencies in the current health system regarding patient counseling. We identified factors that could act as communication barriers if not properly addressed which include: (1) patient's prior medical knowledge, (2) patient's own underlying fears about their health conditions, (3) use of effective patient education tools, (4) minimizing or avoiding use of medical jargon, (5) role switching to verify patient's understanding, (6) repetition of relevant information, and (7) involvement of the patient in shared decision making. It is important to recognize that thyroid gland dysfunction is the most commonly self-diagnosed condition by patients and the blame can be shifted to thyroid despite evidence to the contrary if effective patient education and counseling are lacking. Understanding the psychological state of the patient along with addressing the underlying fears, and effective patient education with repetition is the key for patient compliance and management.

The insidious impact of under-diagnosed proximal weakness induced by statins.

Introduction: This Perspective reassesses the consensus opinion that statin-associated muscle symptoms (SAMS) occur in <1% of users and associated myopathic proximal muscle weakness is even more rare.Areas covered: Of the over 180,000 participants in clinical trials and large registries of statin users, only a few studies have included a standard manual muscle test (MMT), dynamometry or a focused questionnaire to assess for proximal weakness and related disability in daily and recreational activities. Formal strength testing suggests, however, that weakness can be demonstrated in at least 10% of users.Expert opinion: Reporting inaccuracies about SAMS, confirmation bias among experts and physicians, absence of a standard questionnaire regarding the potential consequences of weakness on physical capacity, and the failure to routinely perform an objective assessment of strength may have led to under-diagnosis of statin-induced myopathy. A brief MMT before cholesterol-lowering agents are started and at follow-up visits, a 12-week withdrawal of the statin in the presence of new paresis without an alternative cause, and the exam finding that strength recovers off the statin are necessary to assess the incidence of drug-induced proximal weakness and inform alternative therapeutic strategies.

Juvenile Dermatomyositis: Advances in Pathogenesis, Assessment, and Management.

BACKGROUND: Juvenile dermatomyositis is the most common inflammatory myopathy in the pediatric age group and a major cause of mortality and morbidity in individuals with childhood rheumatic diseases. Mounting evidence suggests that early diagnosis and timely aggressive treatment are associated with better outcomes. OBJECTIVE: The purpose of this article is to provide readers with an update on the evaluation, diagnosis, and the treatment of juvenile dermatomyositis. METHODS: A PubMed search was performed in Clinical Queries using the key term "juvenile dermatomyositis" in the search engine. The search strategy included meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews. The search was restricted to English literature. The information retrieved from the above search was used in the compilation of the present article. RESULTS: Juvenile dermatomyositis is a chronic autoimmune inflammatory condition characterized by systemic capillary vasculopathy that primarily affects the skin and muscles with possible involvement of other organs. In 2017, the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR) developed diagnostic criteria for juvenile idiopathic inflammatory myopathies and juvenile dermatomyositis. In the absence of muscle biopsies which are infrequently performed in children, scores (in brackets) are assigned to four variables related to muscle weakness, three variables related to skin manifestations, one variable related to other clinical manifestations, and two variables related to laboratory measurements to discriminate idiopathic inflammatory myopathies from non-idiopathic inflammatory myopathies as follows: objective symmetric weakness, usually progressive, of the proximal upper extremities (0.7); objective symmetric weakness, usually progressive, of the proximal lower extremities (0.8); neck flexors relatively weaker than neck extensors (1.9); leg proximal muscles relatively weaker than distal muscles (0.9); heliotrope rash (3.1); Gottron papules (2.1); Gottron sign (3.3); dysphagia or esophageal dysmotility (0.7); the presence of anti-Jo-1 autoantibody (3.9); and elevated serum levels of muscle enzymes (1.3). In the absence of muscle biopsy, a definite diagnosis of idiopathic inflammatory myopathy can be made if the total score is ≥7.5. Patients whose age at onset of symptoms is less than 18 years and who meet the above criteria for idiopathic inflammatory myopathy and have a heliotrope rash, Gottron papules or Gottron sign are deemed to have juvenile dermatomyositis. The mainstay of therapy at the time of diagnosis is a high-dose corticosteroid (oral or intravenous) in combination with methotrexate. CONCLUSION: For mild to moderate active muscle disease, early aggressive treatment with high-dose oral prednisone alone or in combination with methotrexate is the cornerstone of management. Pulse intravenous methylprednisolone is often preferred to oral prednisone in more severely affected patients, patients who respond poorly to oral prednisone, and those with gastrointestinal vasculopathy. Other steroid-sparing immunosuppressive agents such as cyclosporine and cyclophosphamide are reserved for patients with contraindications or intolerance to methotrexate and for refractory cases, as the use of these agents is associated with more adverse events. Various biological agents have been used in the treatment of juvenile dermatomyositis. Data on their efficacy are limited, and their use in the treatment of juvenile dermatomyositis is considered investigational.

Granulomatous Myositis Associated with Extremely Elevated Anti-striated Muscle Antibodies in the Absence of Myasthenia Gravis.

Granulomatous myositis is a rare disease that predominantly results in proximal muscle weakness in the upper and/or lower extremities. As it can resemble other inflammatory myopathies, it is important to obtain a muscle biopsy to make the underlying diagnosis. We report the first case of granulomatous myositis associated with extremely elevated anti-striated muscle antibodies in a 69-year-old Caucasian woman. Granulomatous myositis has been associated with various autoimmune, infectious, rheumatologic, vasculitis, and oncologic disorders, and several antibodies have previously been reported to be associated with it. However, to the best of our knowledge, this is the first report where extremely elevated anti-striated muscle antibodies were found to be associated with granulomatous myositis in the absence of myasthenia gravis. The treatment of granulomatous myositis revolves around the use of corticosteroids, steroid-sparing immunosuppressive agents, and newer biologics.

A Rapidly Progressive Case of Statin-induced Necrotizing Autoimmune Myopathy.

Statins are one of the most commonly used medications to lower cholesterol and have been known to cause various side effects including myalgias, myopathies, and rhabdomyolysis. Statin-induced necrotizing autoimmune myopathy (SINAM), a subtype of inflammatory myopathy, is an exceedingly rare but severe side effect of statin use that manifests as progressive muscle weakness. We describe a rapidly progressive case of SINAM in a 66-year-old Haitian female who developed debilitating symptoms after one month of statin use. Despite aggressive treatment with steroids and immunosuppressants, she failed to regain muscle strength and functional status, and remains on therapy. Given the widespread use of statins, it is important for clinicians to be aware of this condition and its presenting symptoms in order to initiate prompt treatment.

Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C.

Charcot Marie Tooth disease type 4C (CMT4C) is considered the most frequent autosomal recessive form of CMT worldwide, being described as an early-onset disorder with marked clinical heterogeneity. We report a CMT4C case associated with dropped head syndrome and predominant involvement of proximal muscles. An 11-year-old boy born to consanguineous parents presented with predominantly proximal muscle weakness with facial involvement, associated with dropped head and severe scoliosis. Symptoms started at the age of 3 years-old with frequent falls. Nerve conduction studies showed a sensorimotor demyelinating polyneuropathy. A comprehensive multigene next-generation sequencing panel for CMT revealed the homozygous pathogenic missense variant c.1969G > A (p.E657K) in SH3TC2 gene, confirming CMT4C diagnosis. The present report broadens the phenotype associated with CMT4C and raises the importance of considering early-onset inherited polyneuropathies in the differential diagnosis of patients with proximal muscle wasting associated with dropped head syndrome.