Weakness Of Upper Limbs Research Articles

Associative brain-computer interface training increases wrist extensor corticospinal excitability in patients with subacute stroke.

In a recently developed associative rehabilitative brain-computer interface (BCI) system, electroencephalography (EEG) is used to identify the most active phase of the motor cortex during attempted movement and deliver precisely timed peripheral stimulation during training. This approach has been demonstrated to facilitate corticospinal excitability and functional recovery in patients with lower limb weakness following stroke. The current study expands those findings by investigating changes in corticospinal excitability following the associative BCI intervention in patients with post stroke with upper limb weakness. In a randomized controlled trial, 24 patients with subacute stroke, subdivided into an intervention group and a "sham" control group, performed 30 wrist extensions. The intervention comprised 30 pairings of single peripheral nerve stimulation at the motor threshold, timed so that the generated afferent volley arrived at the motor cortex during the peak negativity of the movement-related cortical potential (MRCP), which was identified with EEG. The sham group underwent the same intervention, though the intensity of the nerve stimulation was below the perception threshold. Immediately after training, patients in the associative group exhibited significantly larger amplitudes of muscular-evoked potentials, compared with pretraining measurements in response to transcranial magnetic stimulation. These changes persisted for at least 30 min and were not observed in the sham group. We demonstrate that motor-evoked potential amplitudes increased significantly following paired associative BCI training targeting upper limb muscles in patients with subacute stroke, which is in line with results from lower limb studies.NEW & NOTEWORTHY We have demonstrated that a single training session with an associative brain-computer interface increased corticospinal excitability in patients suffering from upper limb weakness following stroke. This is the first time such an effect is described in the upper limb, which paves the way for effect augmentation of existing upper limb rehabilitation protocols.

A rare case of myopathy with fatigability due to PYROXD1 variation

Introduction: Congenital myopathies are a group of heterogenous inherited muscle diseases. With advances in genetics, newer genes with novel features are being described. Pyridine nucleotide-disulfide oxidoreductase domain 1 ( PYROXD1) related myopathy is an ultrarare congenital myopathy. Only few cases have been reported worldwide till now. We report the first interesting case of PYROXD1 related myopathy from India. Methods: This is a retrospective study done from a quaternary neurology referral centre from southern India. All clinical, laboratory and electrophysiological data were collected from the medical records. Institutional ethics approval and informed consent from patient were obtained. Results: A 9 year-old-boy of non-consanguineous parentage presented with progressive fatigable proximo-distal weakness of upper and lower limbs with facial weakness from the age of 4 years. This was followed by chewing and swallowing difficulty. However speech was normal. There was profound proximal and distal joint hyperextensibility along with hip and ankle contractures. There was facial dysmorphism with high arched palate and retrognathism. Investigations showed normal serum creatine kinase levels. Nerve conduction studies showed axonal sensorimotor neuropathy. There was significant decremental response in tibialis anterior. Muscle biopsy showed both myopathic and neurogenic changes with novel findings of mitochondrial aggregates in subsarcolemmal and perinuclear regions. Next generation sequencing revealed a missense variant NM_024854.5:c.394C > T (NP_079130.2:p.Arg132Cys) of uncertain significance in exon 4 of PYROXD1 gene. Conclusion: This is the first report of PYROXD1 related myopathy from India. There were novel features of muscle fatigability, contractures, novel muscle biopsy features and a variant of uncertain significance expanding the phenotypic and genotypic spectrum of this rare myopathy.

Virtual Compared With In-Person Neurologic Examination Study.

The COVID-19 pandemic forced a shift to virtual care in several neurologic care settings. Little is known about the validity of the virtual neurologic examination (VNE) for clinical decision making when compared with the in-person neurologic examination (IPNE). The objective of this study was to investigate the utility of the VNE in arriving at an accurate localization and diagnosis in comparison with the traditional IPNE in an ambulatory outpatient setting. A retrospective chart review of patients examined virtually and in-person within 4 months at outpatient general neurology and neuromuscular clinics from 2 tertiary academic care centers during the COVID-19 pandemic was conducted. The Cohen kappa coefficient was calculated to test agreement between virtual and in-person assessment results, and descriptive statistical methods were used to compare accuracy, localization, and diagnosis. A total of 81 patients met the inclusion criteria. Overall, there was fair agreement between VNE and IPNE (64% agreement, p = 0.003). Substantial agreement between VNE and IPNE was observed for gait abnormalities; moderate agreement for extraocular movements, facial weakness, dysarthria, fasciculation, and lower limb weakness; and fair agreement for bulk, upper limb weakness, and sensation. No agreement between VNE and IPNE was seen for hypokinetic or hyperkinetic movements and cerebellar signs. Compared with the IPNE, specificity of the VNE was 86% and sensitivity was 56%. Some cases demonstrated a consistent localization (44%) and diagnosis (57%) after virtual and in-person assessments. The localization was changed in 15% and refined in 41% of cases between visits. The diagnosis was changed in 14% and refined in 30% of cases. The high rates of agreement in detecting an abnormality on the VNE and IPNE for some maneuvers and resultant clinical impressions may support the validity of the VNE for initial consultation depending on the clinical scenario. The VNE seems to be a good surrogate evaluation compared with the IPNE for certain chief complaints. The low sensitivity suggests that a normal VNE should warrant further in-person clinical correlation, especially in the context of a highly concerning history. The IPNE is more sensitive in detecting subtle abnormalities on examination, and a low threshold should be used to bring a patient in for an IPNE if the VNE is normal in certain clinical contexts.

Childhood acute flaccid myelitis, including the first confirmed cases of enterovirus D68 myelitis, in Singapore and Southeast Asia.

We report the epidemiology, treatment and outcomes of acute flaccid myelitis (AFM), including the first two cases of enterovirus (EV) D68 myelitis, in Singapore. Retrospective observational study from a paediatric hospital in Singapore, from January 2012 to December 2022. Clinical, laboratory, neuroimaging and outcome data were analysed. Eight patients were identified (all male). Median age at presentation was 3 (interquartile range (IQR) 2.2-10.0) years. Seven (87.5%) patients were clustered in two time periods (July 2018-January 2019 and April-August 2022). Presenting features were a preceding febrile respiratory illness (n = 6) or hand-foot-and-mouth disease (n = 2), upper limb weakness (n = 5, 62.5%) and neurogenic bladder (3, 37.5%), while the spinal cord lesions were predominantly in the cervical region (7, 87.5%). Five (62.5%) and six (75.0%) patients had elevated cerebrospinal fluid (CSF) white cells (median 7.5/mm3 (IQR 2.8-40.3)) and protein (median 0.6 g/L (IQR 0.4-0.7)), respectively. CSF was negative for pathogens. Two (50%) of four patients with EV detected in respiratory/rectal swabs had EVD68 (2022 cluster). All received intravenous methylprednisolone, six (75%) had additional intravenous immunoglobulin and either plasma exchange therapy (n = 1) or intravenous tocilizumab (n = 1). Median modified Rankin Scale (mRS) at acute illness was 4 (IQR grades 3-5), with an improvement (median 2 (IQR 1.8-2.3) mRS grades) on follow-up (median duration 3.7 (IQR 1.4-4.1) years). One patient (12.5%) had a full recovery and seven (87.5%) have moderate disability (mRS 2-3). Disability risk in AFM is high despite aggressive immunotherapy. We report the first two confirmed cases of EV D68 AFM in Singapore and Southeast Asia.

Application of Solis fusion device in adjacent segment degeneration revision after anterior cervical discectomy bone grafting fusion

To observe the early clinical efficacy of the zero-remember cervical Solis fusion device in the treatment of adjacent segment degeneration(ASD) revision after anterior cervical discectomy and fusion(ACDF). A retrospective analysis was performed for 13 patients with adjacent spondylosis after anterior cervical discectomy bone graft fusion with Solis fusion device, including 5 males and 8 females, aging from 56 to 78 years old. The patients had intractable neck pain or superficial paresthesia of upper extremities before operation, and the effect of conservative treatment was not good. The operation time, intraoperative blood loss and postoperative complications were recorded. Before operation, 1 week postoperative and final follow-up, the visual analogue scale(VAS) and Japanese Orthopaedic Association(JOA) scores were used to assess clinical efficacy. X-ray and CT of the cervical spine were performed to measure and evaluate the height of the intervertebral space and intervertebral fusion. All patients were followed up from 18 to 36 months. All 13 patients successfully completed revision surgery with single gaps. The operation time was 63 to 93 min, the intraoperative blood loss was 15 to 83 ml. The pain VAS was reduced from 4 to 7 points before surgery to 1 to 3 points at 1 week and 1 to 2 points at the final follow-up. The height of the intervertebral space was increased from 5.2 to 7.2 mm before surgery to 6.4 to 8.0 mm at 1 week after surgery and 6.4 to 7.9 mm at the final follow-up. The JOA score was increased from 11 to 17 points before surgery to 13 to 17 points at 1 week after surgery and 16 to 17 points at the final follow-up visit. At the final follow-up, AP and lateral X-ray films of cervical spine showed homogeneous bone fusion of the Solis fusion. One patient developed transient left upper limb weakness after surgery, which recovered at follow-up, and all patients had no dysphagia, incision hematoma or infection, and displacement. The early clinical efficacy of Solis fusion device in the treatment of orthospondylosis after anterior cervical intervertebral fusion is satisfactory, and it has the advantages of less surgical trauma, adequate decompression, high osseointegration rate and fewer complications, which can provide a new option for minimally invasive treatment of orthospondylosis after cervical spine surgery.

Predisposing factors for incomplete spontaneous recovery after Parsonage-Turner Syndrome.

Parsonage-Turner Syndrome (PTS) is a rare idiopathic brachial neuritis that classically presents with sudden onset upper extremity pain followed by upper limb weakness, sensory disruption, and muscle atrophy. We hypothesized that the type of antecedent event before symptom onset would determine the degree of spontaneous recovery after PTS. We retrospectively reviewed all patients who presented with PTS to a single tertiary referral center from January 2002 to December 2021. Each medical record was reviewed to exclude patients with any other identifiable neurologic etiology. The primary outcome was improved muscle strength measured by a modified British Medical Research Council (mBMRC) grading system. The spontaneous recovery cohort included patients with appreciable or full recovery (mBMRC 4 and 5). In contrast, patients with little to no recovery (mBMRC 0 to 3) were included in the incomplete recovery group. Antecedent events, demographic variables, affected upper extremity region, time between symptom onset and final visit, and presence of nerve surgery were analyzed. Two-tailed T-test and Fisher exact tests were used to compare continuous and categorical variables. Multivariable logistic regression was modeled to identify variables associated with spontaneous recovery. 100 patients with 144 extremities met the inclusion criteria. The average time from symptom onset to the final clinic visit was 3.5 years. 65 extremities (57.0%) spontaneously recovered without surgical intervention, whereas 49 extremities (43.0%) incompletely recovered. The spontaneous recovery cohort was younger (mean [SD] age, 47.4 [18.1] vs. 56.5 [18.7]; p = 0.02) and had fewer bilateral cases (count[%], 4 [6.5%] vs. 10 [26.3%]; p = 0.008). Multivariable logistic regression revealed that each year of increased age was associated with a 3% decreased chance of spontaneous recovery (OR[95%CI] 0.97[0.95, 0.99], p = 0.046). Bilateral involvement was associated with 93% decreased chance of recovery (OR[95%CI] 0.07[0.01, 0.39], p = 0.002), each additional muscle affected was associated with 10% decreased chance of recovery (OR[95%CI] 0.90[0.83, 0.97], p = 0.01), and traumatic antecedent events were associated with increased chance of recovery (OR[95%CI] 27.3[2.59, 287.5], p = 0.006). Younger patients with unilateral symptoms and fewer muscle involvement have a greater chance of spontaneous recovery after PTS. PTS precipitated by trauma may have better spontaneous recovery than those precipitated by other causes.

Brain abscess caused by Mycobacterium tuberculosis in an immunocompetent patient: a case report and literature review.

Brain abscesses caused by Mycobacterium tuberculosis are rarely reported and are typically found in immunocompromised patients. The challenges in identifying the pathogen and the frequent delays in initiating appropriate therapy often result in a poor prognosis for patients. We herein report a rare case of a brain abscess caused by M. tuberculosis in a 63-year-old patient with a history of hypertension but no history of pulmonary tuberculosis. The patient was hospitalized twice because of worsening right upper limb weakness and speech difficulties. Both a pus culture and cerebrospinal fluid culture were negative. Ultimately, the diagnosis of M. tuberculosis infection was confirmed through next-generation sequencing and the tuberculosis-specific T-cell test (T-SPOT). The patient's symptoms improved following anti-tuberculosis treatment. This case highlights the importance of considering M. tuberculosis as a potential cause of brain abscesses, even in immunocompetent individuals, and underscores the need for early diagnosis for effective treatment.

Hirayama Disease in a Young Male: A Case Report

Hirayama disease is a rare benign neurological disease that affects the anterior horn of the spinal cord at C5 to T1, mainly at C7 and C8 due to imbalance growth between the vertebral column and the dura mater leading to microcirculatory disturbances in the anterior portion of the spinal cord due to overstretched cord, especially during flexion of the neck causing unilateral or rarely asymmetrically bilateral upper limb weakness and muscle wasting.It is a case of a 21-year-old boy presented with weaknesses in his left hand and forearm for 2 years which aggravates during cold weather and flexion of the neck. A plain x-ray of the neck and MRI of the cervical spine were conducted which show the features of Hirayama disease.

‘When nature breaks the rules’: Guillain-barré syndrome presenting with descending paralysis

Guillain-Barré Syndrome (GBS) typically presents with ascending paralysis, but we report an atypical case involving descending paralysis in a 36-year-old male. The patient experienced upper limb weakness and respiratory muscle involvement, progressing to respiratory distress. Initial cerebrospinal fluid (CSF) analysis and nerve conduction studies (NCS) were normal, delaying the diagnosis. Treatment with intravenous immunoglobulin (IVIG) led to partial recovery. This case highlights the diagnostic challenges of atypical GBS presentations and the importance of early intervention.

Guillain-Barré syndrome with overlap between the finger drop variant and acute bulbar palsy: a case report

BackgroundGuillain-Barré syndrome (GBS) is a clinically heterogenous disease and encompasses several distinct clinical variants. Overlap between these variants can pose a diagnostic challenge. We report a case of finger drop variant and acute bulbar palsy overlap as an unusual manifestation of GBS.Case presentationAn 81-year-old man presented with dysarthria, dysphagia, and upper limb weakness. Neurological examination revealed impaired tongue protrusion, the finger drop sign, and diminished brachioradial and triceps muscle reflexes. Nerve conduction studies showed reduced amplitudes and decreased velocities in the median and ulnar nerves. Cerebrospinal fluid analysis revealed albuminocytological dissociation and an anti-ganglioside antibody study revealed positivity for GM1, asialo-GM1, GT1a, GD1b, and GQ1b. As GBS was suspected, we initiated intravenous immunoglobulin treatment, resulting in gradual improvement within the next 3 weeks.ConclusionTo the best of our knowledge, this is the first reported case of an overlap between the finger drop variant and acute bulbar palsy in GBS, highlighting the importance of considering GBS when patients present with a combination of atypical symptoms. Anti-ganglioside antibodies can be helpful and add diagnostic value in these complex cases.

Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India.

Cervical flexion-induced myelopathy, also known as Hirayama disease (HD), is a lower motor neuron disorder seen mainly in adolescents and young adults, affecting the C7-T1 myotomes, presenting as asymmetric weakness with wasting of one or both the distal upper limbs. We aimed to describe the clinical features, electrophysiology, and radiologic features of HD in a tertiary care institute in northern India. One hundred and forty patients between 2017 and 2022 with clinical and imaging features consistent with HD were retrospectively reviewed from the All India Institute of Medical Sciences-Comprehensive Neuromuscular Diseases center database. Majority were males with the mean age of onset of illness being 17.8 years. The median duration of the symptoms was 3 (1.5-4) years. Sixty-nine (49%) patients had unilateral involvement, and the disease was actively progressing in 88 (63%) patients at presentation. Two families had history of HD in two (1.4%) siblings. Electromyography showed abnormal findings in the clinically involved limb in all the patients and in the clinically uninvolved limb in 17/50 (34%) patients. Flexion magnetic resonance imaging (MRI) demonstrated forward dural displacement in 134 (96%) patients and asymmetric cord flattening in 124 (88.5%) patients. Disability was graded as mild, moderate, and severe; 12 (13%) had severe disability. The majority were managed conservatively, and four underwent surgery for HD. A high index of suspicion of HD needs to be kept in a young male presenting with distal upper limb weakness and atrophy. Dynamic MRI of the cervical spine in young adults presenting with hand wasting is inevitable. This disease needs to be managed aggressively and early to prevent serious dysfunction and loss of productivity.

Neurosarcoidosis Masquerading as Spinal Stenosis.

A 65-year-old woman was admitted to the neurology department with a suspected demyelinating disease due to complaints of progressive pain and weakness in both upper and lower limbs, as well as urinary incontinence. MRI of the spine revealed complex disc osteophyte with compression of the spinal cord in the cervical and lumbar spine at several vertebral levels, and localized enhancement in the cervical spine at the site of maximal spinal canal stenosis. During her hospitalization, the patient underwent extensive evaluation to rule out any systematic inflammatory diseases, infections, and malignancy. Chest CT revealed bilateral mediastinal lymphadenopathy. Transbronchial mediastinal lymph node biopsy showed numerous non-necrotizing granulomas without evidence of malignancy. After a thorough and careful exclusion of a demyelinating, infectious, and paraneoplastic myelopathies, and based on clinical, radiographic, and pathological findings, the patient was diagnosed with both neurosarcoidosis and spondylotic myelopathy. She was then treated for neurosarcoidosis, including glucocorticosteroids, azathioprine, and a biosimilar of the anti-TNF alpha agent infliximab, resulting in both clinical and radiographic improvement. Intramedullary spinal neurosarcoidosis is very rare and may present with clinical features of spondylotic myelopathy, with typical imaging findings occurring only in areas of spinal canal stenosis.

Effect of modified constraint-induced movement therapy along with bimanual massed practice on upper extremity functions in tetraplegics: a pilot study

Background and objectiveConstraint-induced movement therapy is a widely used rehabilitation program in the stroke population, but its application in spinal cord injury is limited. The objective of the study is to determine the feasibility of modified constraint-induced movement therapy (mCIMT) in incomplete tetraplegia exhibiting upper limb weakness and activities of daily living (ADLs) difficulty.MethodThis is a quasi-experimental one-group pilot study, consisting of 12 subjects diagnosed with incomplete tetraplegia. They received 2-h sessions of modified constraint-induced movement therapy of the weaker hand along with a 1-h session of bimanual massed practice, 5 days a week for 3 weeks. Apart from this, they were asked to do 3 h of constrained-induced movement therapy daily 5 days a week for 3 weeks at their home as a part of a home exercise program. Box and block test (BBT) and Spinal Cord Independence Measure version III (SCIM-III) were taken as the primary measure, and manual function test (MFT) and capabilities for upper extremity (CUE) were used as secondary measures to access hand functions and ADLs. Subjects were examined during pre-intervention and post-intervention.ResultsAfter 3 weeks of intervention, the mean change of the score for the trained hand showed significant changes in the scores of the box and block test (p = 0.03), manual function test (p = 0.02), SCIM-III (p = 0.03), and CUE (p = 0.02).ConclusionThis preliminary study revealed that modified CIMT may be a feasible and effective alternative for hand rehabilitation in incomplete tetraplegia.

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.

Role of Panchakarma in the Management of GB Syndrome with special reference to Sarvangavata

Guillain-barre syndrome is a rare disorder in which the body’s immune system attacks nerves and causes damage to the peripheral nerves. The nerve injury often causes pain to precede muscle weakness that ascends rapidly from lower to upper limbs, loss of reflexes, Numbness, and Miller-Fisher syndrome presents with areflexia, and ophthalmoplegia, often with pupillary paralysis. The signs and symptoms of GBS can be correlated with Sarvangavata in our classics having symptoms like Chesta nivrutti, Ruja, Vaksthamba. In other systems of medicine, the line of treatment includes plasma exchange or intravenous immunoglobulin therapy, ventilatory support gives only symptomatic relief and the chance of re-occurrence will be higher, in such cases the Panchakarma chikitsa, plays an important role in correcting pathophysiology. Methodology: A single case study of male patient aged 16 years presents with bilateral upper limb weakness, Pain over forearm and legs, bilateral lower limb weakness, difficulty in closing the eyes, difficulty in swallowing, 10kg weight loss in a span of 3 months, the symptoms of GB syndrome was co-related with Sarvanga vata Vyadhi initially he was treated with Kosta Shodhana with Nimbamrutadi eranda taila and Agnilepa chikitsa for 7 days considering Kaphavruta vyana followed by the principles of Vatavyadhi chikitsa including Sarvanga abhyanga with Balashwagandha lakshadi taila followed by Shashtika shali pinda sweda, Yoga basti, Anuvasana with Ashwagandha ghrita, Niruha with Mustadi rajayapana with mamsa rasa (meat soup). Result: The patient was assessed with Guillain-Barré Syndrome Disability Scale (Hughes), the total score of the scale was 6. The score before treatment was 4 comes to 2 after treatment, thus we can conclude that Panchakarma treatment found a significant approach in managing GB syndrome.

Proposed criteria for the O'Sullivan McLeod syndrome: Case series and literature review

AbstractWe aimed to summarize the clinical characteristics of the O'Sullivan McLeod syndrome and propose the diagnostic criteria of the syndrome. We reviewed our database to identify patients with the O'Sullivan McLeod syndrome. Online databases including PubMed, EMBASE, and OVID were also searched for relevant cases. We identified a total of 24 cases, including 3 cases from our database and 21 ones from online searching. A predominance of male was observed [17 (73.9%)] with median onset age of 31 (range: 15–56) years old. The median (range) disease duration was 9 (0.5–28) years at the time of the visit. All patients showed involvement of hands and ~1/3 patients reported weakness and atrophy of right/left forearm. The upper arm was scarcely affected (8.7%). Needle electromyography suggested chronic denervation in C7‐T1 among the majority of involved cases (over 78%). Cervical magnetic resonance imaging showed longitudinal T2‐hypertenssive signals among 5/14 (35.7%) patients, which confined to the anterior horn area. No patients showed responsiveness to immunotherapy. Ten patients remained clinical stable during follow‐up, nine ones manifested chronic progressive course. The O'Sullivan and McLeod syndrome, characterized by progressive weakness and atrophy in upper limbs, might be an incurable disorder of lower motor neuron. Onset in early adulthood, the plateau period of over 12 months and years of chronic progression in clinical manifestations might be supportive indicators for the diagnosis of the syndrome. The prognosis is relatively good with no effective treatment.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report

BackgroundMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes and nemaline myopathy are two rare genetic conditions. We report the first case reported in world literature with coexistence of both these rare disorders.Case presentationA 11-year-old previously healthy Sri Lankan male child, product of a nonconsanguineous marriage with normal development presented with acute onset short lasting recurring episodes of right-sided eye deviation with impaired consciousness. In between episodes he regained consciousness. Family history revealed a similar presentation in the mother at 36 years of age. Examination was significant for short stature and proximal upper and lower limb weakness. His plasma and cerebrospinal fluid lactate were elevated. Magnetic resonance imaging brain had evidence of an acute infarction in the right occipital territory. Sanger sequencing for common mitochondrial variants of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes confirmed this diagnosis. Whole exome sequencing revealed pathogenic compound heterozygous variants in NEB gene implicating in coexisting nemaline myopathy. Acute presentation was managed with supportive care, antiepileptics, and mitochondrial supplementation. Currently he is stable on daily supplementation of arginine and limb-strengthening physiotherapy. He is being monitored closely clinically and with serum lactate level.ConclusionGenetic diseases are rare. Coexistence of two genetic conditions is even rarer. Genetic confirmation of diagnosis is imperative for prediction of complications, accurate management, and genetic counseling.

Duropathy as a rare motor neuron disease mimic: from bibrachial amyotrophy to infratentorial superficial siderosis

BackgroundBibrachial amyotrophy associated with an extradural CSF collection and infratentorial superficial siderosis (SS) are rare conditions that may occasionally mimic ALS. Both disorders are assumed to be due to dural tears.Case presentationA 53-year-old man presented with a 7-year history of slowly progressive asymmetric bibrachial amyotrophy. Initially, a diagnosis of atypical motor neuron disease (MND) was made. At re-evaluation 11 years later, upper limb wasting and weakness had further progressed and were accompanied by sensorineural hearing loss. MRI of the brain and spine demonstrated extensive supra- and infratentorial SS (including the surface of the whole spinal cord) as well as a ventral longitudinal intraspinal fluid collection (VLISFC) extending along almost the entire thoracic spine. Osteodegenerative changes were observed at C5-C7 level, with osteophytes protruding posteriorly. The bony spurs at C6-C7 level were hypothesized to have lesioned the dura, causing a CSF leak and thus a VLISFC. Review of the MRI acquired at first evaluation showed that the VLISFC was already present at that time (actually beginning at C7 level), whereas the SS was not. 19 years after the onset of upper limb weakness, the patient additionally developed parkinsonism. Response to levodopa, brain scintigraphy with 123I-ioflupane and brain MRI with nigrosome 1 evaluation were consistent with idiopathic Parkinson’s disease (PD). On the latest follow-up 21 years after symptom onset, the VLISFC was unchanged, as were upper arm weakness and wasting.ConclusionsBased on the long-term follow-up, we could establish that, while the evidence of the VLISFC was concomitant with the clinical presentation of upper limb amyotrophy and weakness, the radiological signs of SS appeared later. This suggests that SS was not per se the cause of the ALS-like clinical picture, but rather a long-term sequela of a dural leak. The latter was instead the causative lesion, giving rise to a VLISFC which compressed the cervical motor roots. Dural tears can actually cause several symptoms, and further studies are needed to elucidate the pathophysiological correlates of “duropathies”. Finally, as iron metabolism has been implicated in PD, the co-occurrence of PD with SS deserves further investigation.

Longitudinally extensive transverse myelitis associated with scrub typhus: A case report

Rationale: Longitudinally extensive transverse myelitis (LETM) is a rare inflammatory demyelinating disease predominantly associated with autoimmune and inflammatory disorders. Scrub typhus can cause a variety of neurological complications, which may result in poor recovery and long-term disability. This report reveals a rare linkage between LETM and scrub typhus. Patient concerns: A 24-year-old female presented with a history of fever for 10 days associated with progressive quadriparesis. Physical examination revealed bilateral lower limb weakness (grade 0/5) and bilateral upper limb weakness (grade 2/5) with reduced sensation below the T3 dermatome. Diagnosis: Scrub typhus presenting with longitudinally extensive transverse myelitis. Interventions: Steroid pulse therapy with antibiotics supported by early intensive rehabilitation. Outcomes: Complete recovery was achieved. Lessons: This case report highlights the importance of considering scrub typhus as a potential cause of LETM in endemic regions, particularly in patients presenting with febrile illness and neurological symptoms.

Facilitating Corticomotor Excitability of the Contralesional Hemisphere Using Non-Invasive Brain Stimulation to Improve Upper Limb Motor Recovery from Stroke-A Scoping Review.

Upper limb weakness following stroke poses a significant global psychosocial and economic burden. Non-invasive brain stimulation (NIBS) is a potential adjunctive treatment in rehabilitation. However, traditional approaches to rebalance interhemispheric inhibition may not be effective for all patients. The supportive role of the contralesional hemisphere in recovery of upper limb motor function has been supported by animal and clinical studies, particularly for those with severe strokes. This review aims to provide an overview of the facilitation role of the contralesional hemisphere for post-stroke motor recovery. While more studies are required to predict responses and inform the choice of NIBS approach, contralesional facilitation may offer new hope for patients in whom traditional rehabilitation and NIBS approaches have failed.