Symmetrical Weakness Research Articles

Anti-SRP myositis: a diagnostic and therapeutic challenge

Background. Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies. Case Presentation. A previously healthy 3-year-old girl presented with progressive symmetrical proximal muscle weakness that caused difficulty in climbing stairs for two months prior to evaluation, and a marked elevation of the serum creatine kinase levels. A skeletal muscle biopsy revealed necrotic and regenerating processes, with mild inflammatory changes. Myositis-specific and associated autoantibodies tested by the immunoblot method were positive for anti-SRP. Pulse corticosteroid, intravenous immunoglobulin, and methotrexate were administered. However, muscle weakness progressed, respiratory distress and dysphagia developed. Rituximab was initiated. While on rituximab treatment, she was able to walk independently and muscle enzymes were within normal range at the 15th month of diagnosis. Conclusion. Early diagnosis of patients with anti-SRP myositis is important to control inflammation and prevent disease progression and complications. To our knowledge, our patient is the youngest case reported in the literature and was successfully treated with rituximab added to conventional therapy.

Resolution of acute motor axonal neuropathy in a patient after treatment with efgartigimod: A case report.

Guillain-Barré syndrome (GBS) is an acute autoimmune neuropathy characterized by progressive muscle weakness, often caused by immunoglobulin G (IgG) autoantibodies. There are several subtypes of GBS, of which acute motor axonal neuropathy (AMAN) is one of the most severe subtypes associated with axonal damage. It is well known that the current clinical standard of treatment is intravenous immunoglobulin (IVIg) and plasma exchange (PLEX), but some patients often show limited response or experience persistent disability. Efgartigimod, an Fc fragment of human IgG antibody, provides a way to target and reduce pathogenic IgG antibodies as a natural ligand Fc receptor (FcRn). The purpose of this study was to observe the therapeutic effect of efgartigimod on axonal GBS, which is expected to be a potential therapeutic method for GBS and AMAN. We present a case of a 58-year-old man diagnosed with AMAN, presenting with ascending symmetrical limb weakness, flaccid paralysis, and multiple cranial nerve palsies. Electromyography confirmed the axonal subtype of GBS. Despite receiving IVIg and PLEX, the patient showed suboptimal recovery. Subsequently, he was treated with efgartigimod at a dose of 10 mg/kg weekly for 4 weeks, demonstrating significant improvement in both clinical symptoms and electromyographic findings, with good tolerability. This case highlights the potential efficacy and safety of a 4-dose efgart-igimod regimen in AMAN, particularly for patients with inadequate response to conventional therapies. By targeting FcRn and promoting IgG degradation, efgartigimod offers a novel mechanism to modulate the aberrant immune response underlying AMAN. Efgartigimod at a dose of 10 mg/kg weekly for 4 weeks demonstrated promising results in this case of AMAN. While further research is warranted, our findings suggest that efgartigimod may represent a valuable addition to the therapeutic armamentarium for AMAN and potentially other autoimmune neurological conditions. Well-designed clinical trials are crucial to confirm these findings and establish optimal treatment protocols for efgartigimod in AMAN.

Guillain-Barré Syndrome in Africa: Understanding, Addressing, and Empowering.

Guillain-Barré Syndrome (GBS) is a spectrum of peripheral neuropathies characterized by rapid symmetrical limb weakness and sensory symptoms. GBS can be life-threatening and requires intensive care, particularly for patients with imminent respiratory failure. In Africa, limited research and high therapy costs pose challenges. This literature review aims to comprehensively address GBS in Africa to improve understanding and outcomes. This literature review aims to provide an extensive overview of GBS in Africa, encompassing its clinical presentation, impact, management approaches, and challenges faced. It also highlights the need for increased research and awareness to enhance patient care and outcomes. A comprehensive review of existing literature on GBS in Africa was conducted, focusing on clinical presentation, diagnosis, management, and its impact on patients and communities. Data sources included medical databases, research articles, and reports. Data was scoured from databases such as PubMed, Medline and Embase. A total of four hundred and fifty-five articles and case studies were screened, with broader topic margins into GBS and different triggers, demographics, statistics, and variations in treatments across the world. These articles were further screened to match our inclusion criteria which focused on articles published after 2000 and which gave clearer insights into the presentations and situation of GBS in the African continent. GBS in Africa is characterized by a range of clinical presentations, with limited diagnostic resources and healthcare infrastructure. Patients often face long intervals between symptom onset and hospitalization, impacting outcomes. The syndrome's impact extends beyond physical symptoms, affecting patients' quality of life, employment, and community roles. Management involves immunotherapy, physiotherapy, and psychosocial support, but high therapy costs and incomplete recovery pose challenges. Research in Africa has grown in recent years but remains limited compared to other regions. Efforts are needed to expand research capacity, introduce early screening programs, and improve healthcare infrastructure. GBS presents a significant healthcare challenge in Africa, with the potential for severe clinical outcomes. This literature review underscores the importance of enhancing research, awareness, and healthcare infrastructure. African-led research initiatives offer hope for improved patient outcomes and healthcare system strengthening. By advocating for increased government support and resources, Africa can address the pressing needs of GBS patients and foster a brighter and healthier future for affected individuals on the continent.

A Rare Case of Dermatomyositis Sine Dermatitis in an Indian Geriatric Patient

Abstract Dermatomyositis sine dermatitis (DMSD) is a rare form of dermatomyositis (DM). They present with subacute to chronic symmetrical proximal muscle weakness, with a female preponderance. It is distinguished from classical DM by the absence of typical skin manifestations. We present a rare case of DMSD in a 65-year-old male patient who had an atypical presentation of subacute swelling and proximal muscle weakness of bilateral upper limbs followed by lower limbs, associated with pain, frailty, and dependency for daily activities. The diagnosis of DMSD was based on the typical muscle biopsy findings in the absence of any skin manifestations aided by elevated muscle-related enzymes, and myopathic patterns on electromyography. The screening was negative for muscle-specific antigens, malignancy, and extra muscular involvement. Pulse steroid therapy followed by gradual tapering, methotrexate, and regular physiotherapy significantly improved functionality.

Correlation of Clinical and Electrophysiological Criteria in the Diagnosis of Guillain-Barré Syndrome: A Prospective Observational Study.

There are many criteria for diagnosing Guillain-Barré syndrome (GBS), and the yield of these diagnostic criteria varies. Each criterion requires some laboratory data and nerve conduction studies (NCS). Although supportive laboratory data are reassuring when present in suspected cases of GBS, when absent, they can potentially cause further delay in diagnosis and treatment. There is no gold standard test for the diagnosis of GBS, and there are multiple diagnostic criteria for GBS to date. The aim of the study is to know the sensitivity of different criteria, clinical and electrophysiological, for the diagnosis of GBS and to study the clinical spectrum and electrophysiological spectrum of GBS in our cohort of patients. We studied a total of 43 cases who presented with one or more of the following symptoms: relatively symmetrical and progressive flail-type weakness of more than one limb, with or without ataxia and/or ophthalmoplegia, and were diagnosed with GBS according to clinical criteria at the time of admission to Government Stanley Medical College Hospital. GBS mimics were ruled out. In all patients, the demographic data, cerebrospinal fluid (CSF) analysis (if done), and electrophysiological findings fitting into the diagnostic criteria of National Institute of Neurological Disorders and Stroke (NINDS), Dutch, and Brighton criteria were recorded. The need for assisted mechanical ventilation, neurology intensive care unit (NICU) stay, any complications, and treatment outcome details were recorded in a structured proforma. Most of the patients in our study were in their fourth decade of life, with a mean age of 41.37 years, similar to previous studies from India. Men are more frequently affected compared to women, similar to what has been observed in most studies done previously worldwide. In our study, electrophysiological criteria by Dutch criteria (87.5%), Brighton criteria (87.5%), and NINDS criteria (85.6%) had low sensitivity compared to the clinical criteria. In the present study, electrophysiological criteria proposed by the NINDS, Dutch, and Brighton criteria are less sensitive compared to clinical criteria in diagnosing GBS at early stages. Clinical criteria alone may be useful in resource-poor countries and at peripheral healthcare systems where NCS are not always readily available.

Multiple sclerosis and amyotrophic lateral sclerosis: is there an association or a red flag? A case report and literature review

BackgroundMultiple sclerosis (MS) is an inflammatory disease of the central nervous system that causes damage to the myelin and axons and is caused by genetic or environmental factors. Amyotrophic lateral sclerosis (ALS) is characterized by rapidly progressive degeneration of the motor neurons resulting in the presence of upper and lower motor-neuron signs and symptoms.Case presentationA 46-year-old female patient presented with symmetrical weakness of the lower limbs and numbness that developed over weeks. Magnetic resonance imaging (MRI) of the brain exhibited typical demyelination features, high signal abnormality involving the periventricular and subcortical white matter, and an oval-shaped lesion. The patient was diagnosed with MS based on the clinical presentation and radiological examination. However, there was rapid progression of the symptoms, involvement of bulbar dysfunction, and muscle atrophy. Furthermore, the patient did not respond to acute therapy and immunotherapy, which made the diagnosis of MS less likely or suggested that it could be associated with another diagnosis. Her neurophysiological test met the criteria of ALS, and she was started on riluzole.Literature reviewWe reviewed all articles from 1986 to 2023, and there were 32 reported cases describing the co-occurrence of ALS and MS in different populations. Our case is the 33rd, and to our knowledge, it is the only case reported in the Middle East and specifically in Saudi Arabia. The main proposed mechanism according to postmortem examinations is a combination of degenerative and inflammatory processes with a cascade of production of reactive oxygen species and nitric oxide, which lead to cell death and apoptosis during concomitant ALS with MS.ConclusionThe co-occurrence of ALS and MS is extremely rare, but it can be explained by pathogenesis related to neurodegeneration, inflammation, or genetic susceptibility. Rapid progressive motor and bulbar symptoms could be red-flag symptoms, extensive evaluation might be needed for these patients.

Coexistence of anti-KS and anti-TIF1-γ antibodies in clinically amyopathic dermatomyositis presenting with rapid progression of interstitial lung disease.

Polymyositis/Dermatomyositis (PM/DM) is an idiopathic inflammatory myopathy (IIM) manifesting mainly as symmetrical proximal muscle weakness and/or typical cutaneous features due to autoimmune mechanisms. Clinically amyopathic dermatomyositis (CADM) is a subset of DM that exhibits only the typical cutaneous features without any clinical muscle symptoms. Several autoantibodies have been found specifically in patients with PM/DM, including CADM patients. Anti-KS antibody is one of a group of anti-aminoacyl transfer RNA (ARS) antibodies that are mainly associated with fever, Raynaud's phenomenon, polyarthritis, and interstitial lung disease (ILD), whereas anti-TIF1-γantibody is frequently found in DM patients with malignancy. Here, we report a CADM patient having both anti-KS antibody and anti-TIF1-γantibody. This patient developed an acute exacerbation of ILD and was successfully treated with high dose corticosteroid pulse therapy together with immunosuppressive agents. Although earlier experience had indicated that the seminal characteristic of anti-KS-positive ILD was slowly developing disease onset with little or no progression over the clinical course, the present patient suffered rapidly progressive disease.

Evaluation of lamin A/C mechanotransduction under different surface topography in LMNA related muscular dystrophy.

Most of the single point mutations of the LMNA gene are associated with distinct muscular dystrophies, marked by heterogenous phenotypes but primarily the loss and symmetric weakness of skeletal muscle tissue. The molecular mechanism and phenotype-genotype relationships in these muscular dystrophies are poorly understood. An effort has been here to delineating the adaptation of mechanical inputs into biological response by mutant cells of lamin A associated muscular dystrophy. In this study, we implement engineered smooth and pattern surfaces of particular young modulus to mimic muscle physiological range. Using fluorescence and atomic force microscopy, we present distinct architecture of the actin filament along with abnormally distorted cell and nuclear shape in mutants, which showed a tendency to deviate from wild type cells. Topographic features of pattern surface antagonize the binding of the cell with it. Correspondingly, from the analysis of genome wide expression data in wild type and mutant cells, we report differential expression of the gene products of the structural components of cell adhesion as well as LINC (linkers of nucleoskeleton and cytoskeleton) protein complexes. This study also reveals mis expressed downstream signaling processes in mutant cells, which could potentially lead to onset of the disease upon the application of engineered materials to substitute the role of conventional cues in instilling cellular behaviors in muscular dystrophies. Collectively, these data support the notion that lamin A is essential for proper cellular mechanotransduction from extracellular environment to the genome and impairment of the muscle cell differentiation in the pathogenic mechanism for lamin A associated muscular dystrophy.

A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned.

Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting in progressive symmetrical weakness and atrophy of the proximal voluntary muscles. Approximately 95% of SMA patients present with homozygous deletion of the SMN1 gene. With multiple available therapies preventing symptom development and slowing disease progression, newborn screening for SMA is essential to identify at-risk individuals. From 2018 to 2023, a total of 239,844 infants were screened. 13 positive screens were confirmed to have SMA. An additional case was determined to be a false positive. We are not aware of any false-negative cases. All patients were seen promptly, with diagnosis confirmed within 1 week of the initial clinical visit. Patients were treated with nusinersen or onasemnogene abeparvovec. Treated patients with two copies of SMN2 are meeting important developmental milestones inconsistent with the natural history of type 1 SMA. Patients with 3-4 copies of SMN2 follow normal developmental timelines. Newborn screening is an effective tool for the early identification and treatment of patients with SMA. Presymptomatic treatment dramatically shifts the natural history of SMA, with most patients meeting appropriate developmental milestones. Patients with two copies of SMN2 identified through newborn screening constitute a neurogenetic emergency. Due to the complexities of follow-up, a multidisciplinary team, including close communication with the newborn screening program, is required to facilitate timely diagnosis and treatment.

Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review.

Spinal muscular atrophy (SMA) is a rare neuromuscular disease, which is characterized by the degeneration of motor neurons, leading to symmetrical muscle weakness and atrophy.Description of two novel SMN1 mutations (patient1: c.683T > A, p.Leu228Ter; patient2: c.347 T > C, p.Ile116 Thr).We reported two patients with SMN1 mutations with the clinical features, and provided a literature review of the previously reported 22 cases.Two SMA patients showed progressive proximal lower limb weakness and milder clinical symptom. In a total of 22 cases, the most commonly observed SMN1 gene alteration was missense mutation (55%), followed by splicing defect (27%), nonsense (9%) and frameshift (9%).We discuss the possible decisive role of these intragenic mutations in the phenotypic results, which enriched the SMN 1 fine mutation database.

The Impact of COVID-19 on the Guillain-Barré Syndrome Incidence.

Despite the fact that the global COVID-19 pandemic has officially ended, we continue to feel its effects and discover new correlations between SARS-CoV-2 infection and changes in the organism that have occurred in patients. It has been shown that the disease can be associated with a variety of complications, including disorders of the nervous system such as a characteristic loss of smell and taste, as well as less commonly reported incidents such as cranial polyneuropathy or neuromuscular disorders. Nervous system diseases that are suspected to be related to COVID-19 include Guillain-Barré syndrome, which is frequently caused by viruses. During the course of the disease, autoimmunity destroys peripheral nerves, which despite its rare occurrence, can lead to serious consequences, such as symmetrical muscle weakness and deep reflexes, or even their complete abolition. Since the beginning of the pandemic, case reports suggesting a relationship between these two disease entities have been published, and in some countries, the increasing number of Guillain-Barré syndrome cases have also been reported. This suggests that previous contact with SARS-CoV-2 may have had an impact on their occurrence. This article is a review and summary of the literature that raises awareness of the neurological symptoms' prevalence, including Guillain-Barré syndrome, which may be impacted by the commonly occurring COVID-19 disease or vaccination against it. The aim of this review was to better understand the mechanisms of the virus's action on the nervous system, allowing for better detection and the prevention of its complications.

Improvement in Balance and Walking in a Patient with Guillain-Barré Syndrome Treated with Acupuncture and Electroacupuncture: A Case Report

Introduction: Gullain-Barré syndrome (GBS) is a rapid, symmetric muscle weakness that often follows respiratory or gastrointestinal infections. Standard treatments include plasmapheresis and intravenous immunoglobulin, but outcomes can vary among patients. The integration of Korean medicine, notably unexplored in quantitative assessments of balance and walking, provides a novel approach to treatment.Case presentation: A 53-year-old male diagnosed with GBS presented to the hospital 8 days post-onset. He received treatments consisting of acupuncture, electroacupuncture, and rehabilitation over a period of approximately 4 weeks. Upon admission, the patient exhibited symptoms of both limb weakness and paresthesia, requiring the use of a wheelchair. Post-treatment, muscle strength and balance were significantly improved, leading to the restoration of independent ambulation, including running.Conclusions: This case illustrates the potential of integrated Korean and conventional medical treatments to accelerate recovery in GBS patients, overcoming typical prognosis timelines. The improvements in gait and balance were substantiated by quantitative assessments, suggesting a promising area for further research into the effects of combined therapeutic approaches to GBS recovery.

CIDP Variants

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a heterogeneous syndrome that has several variants. Although they share macrophage-associated demyelination, clinical, neurophysiological, and pathological investigations have demonstrated that each subtype has a different pathophysiology. Multifocal CIDP exhibits a chronic course with asymmetrical symptoms. Its neurophysiological significance involves multifocal demyelination at intermediate nerve sites. Distal CIDP has a prolonged chronic course, presenting sensory and motor symptoms in a length-dependent manner. Furthermore, it frequently coexists with IgG M proteinemia or other hematologic disorders. Motor CIDP displays symmetric muscle weakness similar to typical CIDP but lacks sensory involvement. Often, motor CIDP is associated with malignancy or inflammatory diseases. Although acute deterioration after corticosteroid therapy in patients with motor CIDP is well-known, the available evidence to support this is limited.

Laparoscopic sleeve gastrectomy in a young female with Guillain-Barré syndrome and situs inversus totalis: a case report

Laparoscopic sleeve gastrectomy (LSG) has emerged as a prominent bariatric surgery (BS) procedure due to its efficacy in weight reduction and improvement of associated co-morbidities. Although BS can be an underlying cause of Guillain-Barré syndrome (GBS), it's influence on those with a history of GBS remains uncertain. GBS is a rare autoimmune disorder characterized by symmetrical muscle weakness, and its coexistence with situs inversus totalis (SIT), a congenital condition involving mirrored organ placement, poses unique surgical challenges. We present a case of a 24-year-old female with a history of GBS and SIT seeking LSG for obesity management. Preoperative assessment involved multidisciplinary collaboration, and surgical adaptation was necessary due to anatomical anomalies. Trocar placement mirrored organ positions, facilitating successful surgery. Postoperative recovery was uneventful. At the one-year follow-up, she had a discernible improvement in the weakness that she expressed in her lower limbs. Obesity exacerbates GBS-related complications, necessitating careful consideration of surgical interventions. SIT presents technical challenges during laparoscopic procedures, demanding surgical expertise. Multidisciplinary assessment and surgical adaptation are crucial for optimizing outcomes. This case demonstrates the successful management of obesity in a patient with GBS and SIT through LSG, highlighting the importance of a comprehensive approach and surgical adaptation. LSG proves effective in promoting weight loss and improving mobility in such complex cases. Continued documentation of unique cases is essential for guiding future interventions in this challenging patient population.

Differentiating recurrent Guillain-Barre syndrome and acute-onset chronic inflammatory polyneuropathy: literature review.

Guillain-Barre syndrome (GBS) is an acute-onset immune-mediated polyneuropathy characterized by ascending symmetrical muscle weakness, diminished reflexes, and sensory symptoms. While GBS typically follows a monophasic course, some patients experience treatment-related fluctuations or recurrences, posing diagnostic challenges in distinguishing GBS from acute-onset chronic inflammatory polyneuropathy (A-CIDP). A-CIDP, may present acutely, simulating GBS, with a nadir in less than 8weeks, subsequently evolving into a chronic or relapsing course. The distinction between recurrent GBS and A-CIDP is crucial, as A-CIDP necessitates long-term immunosuppression. A PubMed search was conducted using the search terms 'recurrent Guillain Barre syndrome' and 'acute onset CIDP' focusing on studies in theEnglish language, published between January 1, 2004 and April 30, 2023. Overlapping clinical features, particularly in the early stages, complicate differentiation between recurrent GBS and CIDP. Electrophysiological studies, ultrasonography, and immunological markers have been explored for discrimination; however, definitive criteria for differentiation remain elusive. Recent follow-up studies have further blurred the boundaries between recurrent GBS and A-CIDP, suggesting the persistence of underlying immune processes even in GBS patients without clinical deterioration. This emphasizes the necessity of reevaluating diagnostic criteria and treatment strategies. In conclusion, distinguishing recurrent GBS from A-CIDP remains an ongoing challenge. Existing evidence questions the categorization of recurrent GBS as a distinct entity, challenging its very existence. Continued research is necessary to refine diagnostic criteria and deepen our understanding of these conditions, ultimately advancing patient care. This review delves into the intricacies of recurrent GBS and A-CIDP differentiation and highlights the need for a reevaluation of therecurrent GBS concept.

Glue-Sniffing Neuropathy: A Case Report

Glue, a volatile substance that is illegal as a recreational drug, has been popularly used for decades, and it can serve as a stepping stone for harder drugs. Chronic exposure can lead to substantial damage to several organs, including central and peripheral nervous systems. Glue-sniffing neuropathy has been reported since the 1960s, but with a lower frequency in recent years. We report a 45-year-old man who sniffed glue and presented with symmetrical distal motor weakness and paresthesia. Based on the patient’s inhalation history and initial electrodiagnostic study, we considered toxic neuropathy and demyelinating polyneuropathy in the differential diagnosis. He became chair-bound with repeating glue sniffing, and a following nerve conduction study showed the progression of motor-dominant polyneuropathies with markedly reduced amplitudes. An incomplete response to steroid therapy and recovery with inhalant cessation confirmed the diagnosis of glue-sniffing neuropathy. We conclude that glue, a neurotoxic volatile inhalant, produced glue-sniffing neuropathy with characteristic clinical and electrodiagnostic features.

Physiotherapy Management of Guillain-Barré Syndrome in a Tertiary Hospital in South-South Nigeria: A Case Report.

Background: Guillain-Barré Syndrome (GBS) is a potentially life-threatening post infectious disease characterized by rapidly progressive, symmetrical weakness of the extremities. It can cause life-threatening complications, particularly if the breathing muscles are affected or if there is dysfunction of the autonomic nervous system. Case Presentation: This is a case report of Physiotherapy management of a 51-year old female patient with Guillain-Barré Syndrome (GBS). Patient was referred from the neurology unit, department of Internal Medicine, University of Port Harcourt Teaching Hospital (UPTH) to the neurology clinic of the physiotherapy department, UPTH as a case GBS after series of investigations. Appropriate physiotherapy intervention was given for a period of 36 weeks after a thorough assessment of the patient. The Guillain-Barre Syndrome Disability Score was used to assess the overall functional status of the patient while the Oxford Muscle Grading Scale was used to assess for muscle strength. The Numerical Pain Rating Scale (NPRS) was used to assess the level of pain in the limbs while the Berge Balance Scale (BBS) was used to assess the patient’s balance. The case report was presented in line with the CARE: Case Report Guideline for case reports. All ethical procedures were followed. Treatment outcome: Treatment outcome revealed that the Guillain-Barré Syndrome Disability Score reduced from 4 to 2 while that of Berg Balance Scale increased from 3 to 42 after 36 weeks of intervention. Pain level on range of motion of the limbs based on the Numerical Pain Rating Scale reduced from 6/10 to 1/10 on the upper limb and from 8/10 to 2/10 on the lower limbs. Conclusion: Physiotherapy is effective in the management of patients with Guillain-Barré Syndrome. Early referral to Physiotherapy is key to pain management, balance control and overall functional status of the patients.

Gene therapy for spinal muscular atrophy (SMA): First experience with Onasemnogene abeparvovec (Zolgensma®) in a private hospital in Mexico

Spinal muscular atrophy is a hereditary neuromuscular disease characterized by the degeneration of alpha motor neurons of the anterior horn of the spinal cord, leading to progressive symmetrical muscle weakness and a high risk for respiratory complications resulting in the need for some degree of ventilatory support. Two infants are presented with hypotonic syndrome in which spinal muscular atrophy was diagnosed by a genetic study. Gene therapy with Zolgensma® was used to evaluate the clinical improvement in motor function according to the Chop Intend Scale.

Anti‐TIF‐1γ dermatomyositis: Erythematous eruption with weakness and normal creatine kinase

AbstractWe describe a case of a previously well 76‐year‐old woman who presented with 9 months of a generalised pruritic rash alongside fatigue, weight‐loss and a symmetrical weakness of the legs.

Ayurvedic Management of Duchenne Muscular Dystrophy in Children: A Narrative Review

Duchenne Muscular Dystrophy (DMD) is the most common primary myopathy of children. There are many muscular diseases in children which are inherited through generations. All those are known as congenital myopathy. This disease is an X-linked recessive disorder produced by the abnormality of the gene Xp21. It is a severe condition that poses a life-threatening risk and significantly reduces a patient's lifespan. It is characterised by progressive symmetrical muscular weakness, with proximal muscles being more affected than distal ones. Additionally, individuals with DMD often exhibit pseudohypertrophy of the calf muscles. The compilation of data from classical Ayurvedic texts contributes to a holistic understanding of potential interventions, aiming to improve patient quality of life and prevent contractures. The study is crucial in bridging traditional and contemporary healthcare practices, offering valuable insights for clinicians and the wider medical community in addressing the multifaceted challenges posed by DMD. This research underscores the need for an integrative and comprehensive approach to enhance therapeutic strategies for this prevalent X-linked recessive disorder. In pursuit of this objective, concerted efforts have been directed towards raising awareness among both the general public and the medical community. Furthermore, the review delves into the exploration of various Panchakarma treatments, a traditional therapeutic approach rooted in Ayurveda. By consolidating and synthesising data derived from classical Ayurvedic texts pertaining to DMD, this review seeks to provide a holistic understanding of potential interventions. The goal is to contribute to the advancement of therapeutic strategies that can ameliorate the impact of DMD on patients' lives, fostering a more comprehensive and integrated approach to managing this challenging condition.