Weakness Of Upper Limbs Research Articles

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.

Tibial muscular dystrophy (TMD) is a dominant late onset distal titinopathy. It was first described in Finnish patients 3 decades ago. TMD patients with several other TTN mutations occur in many European populations. In this retrospective study, we were able to obtain longitudinal follow-up data of the disease progression over 15 years in 137 TMD patients. We retrieved clinical data retrospectively from three examinations spanning a period of 15 years. The data were analyzed in R. Frequencies, percentages, and median values were used to describe data. Probability values were determined with the chi-squared test. In the cohort, the first symptoms were walking difficulties (97.8%) and weakness in distal lower limbs (98.5%). The progression of the weakness in distal lower limbs was moderate, and in the proximal lower limbs and proximal upper limbs it was mild. The distal upper limbs were not affected. Magnetic resonance imaging results indicated fatty degeneration preferentially in lower leg anterior muscles, gluteus minimus, and hamstring muscles. Serum creatine kinase values in the cohort were mostly normal (40.7%) or mildly elevated (53.7%). The data suggest that 50% of patients need walking aids by the age of 88 years. Despite individual variability of severity, the overall disability due to walking difficulties and upper limb weakness remained moderate even at very advanced ages, and cardiomyopathy did not develop due to the titin defect alone. The acquired results promote the correct identification of TMD, and the obtained trajectories of disease evolution can be used as natural history data for any therapeutic intervention.

A genotype–phenotype description in two Indian patients: Broadening the spectrum in VRK1‐related complex motor disorders

AbstractVRK1 (vaccinia‐related kinase 1) was initially reported to be associated with spinal muscular atrophy–pontocerebellar hypoplasia (SMA‐PCH). Congenital or infantile‐onset progressive sensory‐motor neuropathy with microcephaly, adult‐onset distal SMA, and adult‐onset motor neuron disease are the other phenotypes described recently with VRK1. Since VRK1‐related complex motor disorders other than PCH is rare, we aim to depict the diverse clinical phenotypes and the genotypes of two patients with VRK1 variants from India. Proband‐1 is a 7‐year‐old girl who presented with distal muscle weakness and wasting of upper and lower limbs with brisk deep tendon reflexes (DTR), mild intellectual disability, and behavioral problems. She had a homozygous c.1159 + 1G > A pathogenic variant in VRK1, inherited from parents. Proband‐2 is a 25‐year‐old adopted male with sensory‐motor neuropathy and brisk DTR. He had a homozygous c.7C > T (p.R3C) missense variant of uncertain significance in VRK1 predicted to be damaging by multiple computational tools.

Glioblastoma in the contralateral cerebral hemisphere with previous surgery for meningioma: A case report

Meningioma and glioblastoma (GBM) are 2 common intracranial tumors with different pathophysiologies and prognoses. It is rare for these 2 kinds of tumors to occur in the same patient. Most of the similar cases reported in the literature have been treated with radiotherapy, while cases without radiotherapy are rare. In particular, GBM in the contralateral cerebral hemisphere after resection of meningioma has not been reported. We present a case of a 66-years-old man with GBM in the right temporal lobe after previous resection of a benign meningioma of the left frontal lobe without radiotherapy. The patient was admitted to our hospital for the first time because of right upper limb weakness. Brain magnetic resonance imaging indicated a space-occupying lesion in the left frontal area. Surgical treatment was performed, and postoperative pathology confirmed a meningioma. The patient was readmitted to the hospital 3 years after surgery of the meningioma due to a new lesion of the right temporal lobe and underwent reoperation. The postoperative pathological results showed GBM. The patient underwent 2 operations, and the postoperative pathologies were meningioma and GBM. In addition, the patient received concurrent chemoradiotherapy and 2 cycles of temozolomide adjuvant chemotherapy. During the last 4 months of follow-up, the patient was in good condition with no recurrence of the tumor. The development of GBM without radiotherapy after meningioma surgery is very rare, especially at different sites, and it is necessary to accumulate relevant cases to reveal the causes of the disease and provide more evidence for the treatment of similar patients in the future.

The flail-arm syndrome: the influence of phenotypic features

Objective: The flail-arm syndrome (FAS), one of the Amyotrophic lateral sclerosis (ALS) phenotypes, is characterized by slow progression and predominantly lower motor neuron (LMN) involvement with proximal upper limb (UL) weakness. We aim to characterize the clinical features, progression and survival of FAS associated with distal or proximal onset and presence or absence of upper motor neuron signs (UMN) signs at diagnosis. Methods: Data from 704 ALS patients was analyzed. Of the 190 patients with UL onset; 134 were excluded as not respecting the published criteria for FAS. The included patients were divided into four groups according to distal/proximal onset and presence/absence of UMN signs. Results: 56 FAS patients (8% of the population), median age at onset 59.9 years (Q1/Q3, 50.3–68.1), 75% men, were studied. Distal onset with UMN signs occurred in 37.5%, distal onset without UMN signs in 28.6%, proximal onset with UMN signs in 8.9% and proximal onset without UMN signs in 25%. Age of onset, sex, fasciculations at onset, diagnostic delay, progression rate, time to respiratory involvement and survival were similar among the four groups. Sex ratio was more balanced in patients with UMN signs (p = 0.032) and survival was shorter (69.5 months, 95% CI: 55.4–110.4 vs 152.6 months, 95% CI: 69.0–177.3; p = 0.035). The Cox regression identified rate of progression (p < 0.001) and UMN signs (p = 0.003) as independent predictors of shorter survival. Conclusions: Distal or proximal onset had no influence on clinical characteristics and prognosis but UMN signs at diagnosis are a negative prognostic predictor.

PS-R06-5: CASE REPORT OF INCREASED ARTERIAL STIFFNESS IN MOYAMOYA DISEASE IN A YOUNG CHINESE PATIENT PRESENTING AS RECURRENT STROKE IN SINGAPORE

Introduction: Moyamoya disease (MMD) is characterised by progressive stenosis of distal ICA and the resulting hazy network of basal collateral vessels. Increase arterial stiffness in MMD is not well described. Case report: We describe a young patient ML, a 42-year-old Chinese female, presented to hospital in June 2015 with headaches, on a background of known hypertension diagnosed at the age of 28 years. Her systemic examination was normal. Investigations were unremarkable. She was followed in General Medicine (GM) clinic from 2015, which ruled out secondary causes of hypertension, including renovascular disease, renal artery stenosis, phaeochromocytoma and hyperthyroidism. ML was treated for presumptive essential hypertension. Over time, her BP remained stable on candesartan 16 mg and bisoprolol 2.5 mg once daily. She continued to have intermittent headaches. Recurrent ischaemic strokes and diagnosis of Moyamoya disease ML presented with intermittent right-sided facial numbness in February 2017. A magnetic resonance imaging (MRI) brain done showed no acute infarct or hemorrhage, but moderately severe narrowing of the left terminal internal carotid artery (ICA), associated with poor flow signals in both the A1 segment of the left anterior cerebral artery (ACA) and the M1 segment of the left middle cerebral artery (MCA). She was started on clopidogrel 75 mg and atorvastatin 40 mg daily. The second stroke occurred in March 2019, when ML presented with acute right upper and lower limb weakness, and right facial, upper and lower limb numbness. Magnetic resonance angiography (MRA) demonstrated severe stenosis at the left terminal ICA, also involving the left M1 and A1 segments; collateral flow was observed. The third stroke happened in April 2019, presenting with acute right-sided facial and upper limb weakness, with BP of 201/86mmHg. MRI and MRA of the brain revealed new acute infarcts scattered in the territories of the left MCA and ACA. A CT angiogram re-demonstrated severe steno-occlusive disease involving the left ICA T-junction and left M1 and A1 segments, with extensive basal collaterals. In light of these findings, Moyamoya disease (MMD) was diagnosed. ML underwent a left external carotid-internal carotid bypass in June 2019. An arterial stiffness study by syphgmoCor in June 2020 using markedly increased arterial stiffness. Conclusion: We present first and very rare case of hypertension in a young patient with MMD associated with increased arterial stiffness. Systemic vascular affection in MMD may be the cause of increased arterial stiffness.

CEREBRAL VENOUS THROMBOSIS -A CASE SERIES OF ATYPICAL PRESENTATION

Cerebral Venous Sinus Thrombosis is blood clot in draining veins and venous sinuses of brain, causing hindrance in the blood drainage system in brain, disturbing the internal homeostasis of brain, resulting in local oedema, ischemia, venous haemorrhage, damage to brain parenchyma and blood brain barrier. In our case series we discussed 3 cases i.e 37yr/female came with complaints of headache, vomiting and gtcs, NCCT brain was suggestive of SAH without parenchymal involvement, which is a rare nding. Another case 45 year old female presented with complaints of headache and weakness of left upper and lower limb &amp; gtcs, she is a known case of nephrotic syndrome, which is a risk factor for thrombosis. The last case was of 32 years old female, primi-gravida with 36 weeks of gestation came with complaints of headache, blurring of vision, 2-3 episodes of vomiting &amp; gtcs, MRI brain was suggestive of CVT and thus CVT should also be considered as one of the diagnosis apart from eclampsia, meningitis &amp; PRES in pregnancy. An early diagnosis can be very fruitful as it might prevent long term disability and reduce mortality signicantly.

Integrative Ayurveda approach to manage Degenerative Cervical Myelopathy (DCM)-A Case Report

Cervical myelopathy involves compression of spinal cord caused by degenerative process of cervical vertebrae or due to trauma. Cervical myelopathy is characterized by pain, stiffness in cervical region and tingling sensation in both upper and lower limb, clumsiness of hands, weakness and difficulty in handling small objects. Available treatment modalities are NSAID’s, Steroids, physiotherapy and cervical support for pain management. Surgery is necessary if conservative treatment fails. In Ayurveda some Para surgical modalities are used to treat this condition like Agnikarma and Raktamokshan along with Shaman Aushadhi. In this case study a 39 years old male patient came to outdoor patient department with complaints of neck pain, neck stiffness and tingling sensation in upper limbs while heaviness and weakness in both upper and lower limbs for last 4 months and especially tingling of upper limb during extension of neck. Patient have alleged history of weight fallen on head in flexed position of neck before 4 months. This case was managed with 4 sittings of Agnikarma with 7 days interval between each sitting and 2 sittings of wet cupping with 15 days interval along with Rasna Saptak Kwath, Erandamula Kwatha, Navjivan Rasa, Ashwagandha Arishta, Karpasasthyadi Taila for 3 months. Patient got relief from symptoms as well as improved routine life with increased in spinal canal diameter at C3-C4 level. This single case demonstrates that TCM can be managed by Ayurveda para surgical procedures along with adjuvant drugs.

Deep Brain Stimulation for Holmes Tremors and Literature Review.

Deep Brain Stimulation for Holmes Tremors and Literature Review.

MR Perfusion Imaging as a Problem- Solving Tool for Differentiating High-grade Glioma and Tumefactive Demyelination: A Report of Two Cases

Clinically, it is nearly impossible to differentiate between high-grade glioma, specifically Glioblastoma Multiforme (GBM), and Tumefactive Demyelination (TMD). Radiologically, distinguishing between GBM and TMD is challenging since they show similar findings on Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). To avoid invasive procedures that may increase patient morbidity, the use of MR perfusion imaging is highlighted in these case reports. We present two cases of young adult females with neurological deficits. The first case involves an 18-year-old female who presented with a dull, intermittent, holocephalic headache for eight months, along with heaviness and recent onset of pain in the right upper limb. MR spectroscopy revealed an increased choline/creatinine ratio at the margins of the lesion, measuring approximately 2.4, with a decrease in N-Acetylaspartate (NAA) and NAA/Creatinine. Based on these findings, the possibility of either high-grade glioma or TMD was considered. Further evaluation using perfusion imaging showed a substantial increase in the mean relative Cerebral Blood Volume (rCBV) within the lesion, suggesting a higher likelihood of high-grade glioma rather than TMD. Biopsy confirmed the diagnosis as high-grade glioma (GBM), revealing marked mitotic changes with nuclear pleomorphism and multinucleated cells. The second case involves a 22-year- old female who presented with left upper limb and lower limb weakness for 10 days. MR spectroscopy showed reduced NAA values and an elevated choline peak with small lactate at a few places. A choline/creatine ratio of 1.9 was obtained. On perfusion imaging, the observed mean rCBV values were substantially low (rCBV measuring approximately 1.07). Consequently, a final radiological diagnosis of TMD was considered. A biopsy confirmed the presence of inflammatory demyelination.

Miller Fisher Syndrome Induced by Chemotherapy in Known Case of Acute Lymphocytic Leukaemia: A Case Report

Introduction: Guillain-Barre Syndrome (GBS) is an acute-onset autoimmune-mediated neuropathy. Guillain-Barre Syndrome can be divided into three subtypes: acute inflammatory demyelinating poly-radiculo-neuropathy (AIDP), acute motor axonal neuropathy (AMAN), and acute motor sensory axonal neuropathy (AMSAN). About 20% of patients with GBS develop respiratory failure and require mechanical ventilation. We are presenting a variant of GBS (Miller Fisher Syndrome, or MFS), which has been confirmed by nerve conduction studies along with the triad of ophthalmoplegia, ataxia, and areflexia. The objective of this study is to present a rare case of chemotherapy-induced GBS. Important clinic findings: A 25-year-old gentleman with acute lymphocytic leukemia on active chemotherapy treatment presented with lower limb weakness. This weakness started after his fifth chemotherapy session. After the sixth chemotherapy, he developed complete paralysis of the left lower limb. Later, he developed right lower limb paralysis. He was also complaining of eye dryness and incomplete closure of both eyes. While inpatient, he developed upper-limb weakness. His chemotherapy consisted of MESNA, cyclophosphamide, doxorubicin, vincristine, cyorabine, and methotrexate. He had ptosis and ophthalmoplegia in the left abducent and right oculomotor regions. He had bilateral facial nerve palsy. He was hypotonic with power grade 3 in the upper limbs and grade 0 in the lower limbs with areflexia. His sensation was intact in the upper limbs but lost in the lower limbs. His planter reflexes were mute. Diagnoses and Management: Intravenous immunoglobulins were given for 5 days. A nerve conduction study showed severe demyelinating sensorimotor polyradoculoneuropathy with secondary axonal loss. The triad of ataxia, ophthalmoplegia, and areflexia was consistent with MFS. The patient improved over the course of the hospital stay but did not reach full recovery. Conclusion: Although GBS is uncommon, it must be taken into account when making a differential diagnosis for any patient presenting with progressive weakness. Drug history is important in all GBS cases.

The clinical profile of amyotrophic lateral sclerosis patients presenting to the National Hospital of Sri Lanka

OBJECTIVES Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease. Published data on ALS in Sri Lanka is scarce. The aim of this study was to describe the clinical profile of ALS patients presenting to the National Hospital of Sri Lanka(NHSL). METHODS A descriptive cross-sectional study was carried out in 33 consecutive patients with “clinically definite ALS” according to revised El-Escorial and Awaji criteria, who presented from May 2018-May 2020 to two neurology units at NHSL. RESULTS The mean age was 59.7 (±12.3) years while 57.6%(n=19) were males. The average duration for diagnosis was 15.48 (±12.4) months. The commonest first symptom was upper limb weakness 39.4%(n=13) followed by lower limb weakness 33.3%(n=11) and bulbar symptoms 27.3%(n=9). According to King’s Staging System, 18.2%(n=6) were in stage 1, 39.4%(n=13) were in stage 2, 36.4%(n=12) were in stage 3 and 3%(n=1) each were in stage 4A and 4B at the time of diagnosis. None had a family history of ALS. Four were treated with Riluzole. Out of all, 45%(n=15), 24.2%(n=8) and 6.1%(n=2) were referred for physiotherapy, occupational therapy and psychiatry assessment respectively. Seventy five percent (18/24) patients with bulbar symptoms, were referred to speech therapists and one had gastrostomy. Advance directives were not discussed with any of the patients. CONCLUSION The ALS patients presenting to the NHSL had a mean age of 59.7yrs with a slight male preponderance. The average duration taken for diagnosis was 15.5months while the commonest first presentation was upper limb weakness. Most present in King’s stage 2 or 3 and only a few were treated with disease modifying agents. Multidisciplinary care provided and management of disease related complications were suboptimal. Discussing about advance directives with ALS patients, is yet not part of Sri Lankan practice. This emphasizes the need to enhance standards of care for ALS patients to improve their quality of life.

Cervical cord infarction mimicking migraine in a patient with vertebral artery dissection.

Cervical cord infarction mimicking migraine in a patient with vertebral artery dissection.

Innovative C-Arm-Free Navigation Technique for Posterior Spinal Fixation for Atlantoaxial Subluxation: A Technical Note.

Study design: Technical note. Objectives: To present a novel C-arm-free technique guided by navigation to insert and place a C1 lateral mass screw. Background and Objectives: Atlantoaxial subluxation (AAS) is a relatively common sequelae in patients with rheumatoid arthritis (RA) and upper cervical trauma. If they present with severe symptoms, surgical intervention such as posterior fusion is indicated. The established treatment for AAS is fixation with a C1 lateral mass screw and C2 pedicle screw (modified Goel technique) to achieve bony fusion. However, this technique requires fluoroscopy for C1 screw insertion. To avoid exposing the operating team to radiation, we present here a novel C-arm-free C1 lateral mass screw insertion technique for AAS. Materials and Methods: A 67-year-old man was referred to our hospital with neck pain, quadriparesis, and clumsiness and numbness of both upper and lower limbs. He had undergone C3-6 posterior fusion previously in another hospital. In physical examination, he had severe muscle weakness of bilateral upper limbs and hypoesthesia of all four limbs. He had hyper-reflexia of bilateral lower limbs and pollakiuria. His Japanese orthopedic score was 8 points out of 17. Preoperative radiograms showed AAS with an atlantodental interval (ADI) of 7 mm. MRI indicated retro-odontoid pseudotumor and severe spinal cord compression at the C1-2 level. The patient underwent posterior atlantoaxial fixation under navigation guidance. To prevent epidural bleeding during the insertion and placement of a C1 lateral mass screw, we have here defined a novel screw insertion technique. Results: The surgical time was clocked as 127 min and blood loss was 100 mL. There were no complications per-operatively or in the postoperative period. The patient showed almost full recovery (JOA 16/17) at two months follow-up and a solid bony fusion was noticed in the radiograms at one year follow-up. Conclusions: This novel surgical procedure and C1 lateral mas screw placement technique is a practical and safe method in recent advances of AAS treatment. Procedurally, the technique helps prevent epidural bleeding from the screw entry point and also allows for proper C1 screw insertion under navigation guidance without exposing surgeons and staff to the risk of fluoroscopic radiation.

Awake Craniotomy for Cerebral Abscess with Pulmonary Arteriovenous Malformation

AbstractA cerebral abscess can be a life-threatening complication of pulmonary arteriovenous malformations (PAVM), thus posing significant morbidity if left untreated. We report a case of an incidental finding of a PAVM in a patient diagnosed with cerebral abscess. A 22-year-old male presented to the emergency department with acute onset right-sided weakness in both upper and lower limbs for 1 week. Magnetic resonance imaging showed a ring-enhancing lesion within the left parasagittal frontoparietal region s/o intracerebral abscess. High-resolution computed tomography was done as a protocol in patients posted for surgery due to coronavirus disease 2019 and coincidentally, it showed a single well-defined parenchymal nodule, 4 × 3.4 cm in the lateral basal segment of the left lower lobe. The knowledge of the pathophysiology of PAVM and expected complications during general anesthesia (GA) and positive pressure mechanical ventilation is essential. In such conditions, awake craniotomy under conscious sedation and scalp block may be considered as an alternative to GA.

Effect and safety of Tubridge flow diverter in the treatment of unruptured intracranial aneurysms

The effect and safety of the Tubridge flow diverting device are unknown in the treatment of intracranial aneurysms after optimization of the device, improvement in the deployment of the device, and accumulation of experience of using the device. This retrospective one-center study was performed to investigate the clinical effect and safety of the Tubridge flow diverting device in the treatment of unruptured intracranial aneurysms. Twenty-three patients with 33 unruptured intracranial aneurysms which were treated with the Tubridge device were retrospectively enrolled. The clinical data, endovascular procedure, complications, and follow-up were analyzed. Twenty-seven Tubridge devices were deployed to treat the 33 aneurysms, and the deployment was failed in 1 case, resulting in the success stenting rate of 96.3%. In 5 (15.2%) aneurysms, coils were loosely packed. Peri-procedural complications occurred in 2 patients (8.7%), including 1 procedure-related complication in which the distal end of a Tubridge device herniated into the aneurysm cavity. In another case, weakness of left upper limb occurred on the second day post procedure, with instent thrombosis being suspected, which was recovered after medication. No other complications occurred. Twenty-three (100%) patients had clinical follow-up 6 months later, with the mRS of 0 in 21 patients, 1 in 1, and 2 in 1. Five (21.7%) patients with 11 aneurysms underwent digital subtraction angiography at 6-month follow-up, with 8 aneurysms being completely occluded (Raymond grade I) and 3 aneurysms still visible (Raymond grade III). The Tubridge flow diverter may be safe and effective in the treatment of unruptured intracranial aneurysms with low perioperative complications and good follow-up outcomes even though multi-center and prospective clinical studies with a large size sample are still needed to validate these results.

A Challenging Rare Motor Neuron Disease to Diagnose

Mills hemiplegic variant is a progressive motor neuron disease characterized by spastic ascending or descending hemiparesis or hemiplegia with no sensory involvement. We presented a 53years old male patient with a history of present complaints was difficulty on walking, and difficulty in speech then he developed left lower limb weakness followed by left upper limb weakness for the last 6 months. Electromyography showed a neurogenic pattern with denervation with reinnervation. Then, he successfully accomplished his treatment. The biggest challenge in making a diagnosis is ruling out other conditions that may have symptoms similar to this disease entity. Keywords: Mills hemiplegic, Electromyography, Motor neuron disease

CASQ1‐related myopathy: The first report from China and the literature review

Calsequestrin 1 (CASQ1) is the most crucial Ca2+ binding protein localized in the sarcoplasmic reticulum (SR) of skeletal muscle. With high capacity and low affinity for Ca2+, CASQ1 plays a significant role in maintaining a large amount of Ca2+ necessary for muscle contraction. However, only five mutations in CASQ1 have been identified to date. Here, we report a 42-year-old Chinese female patient who presented with a 12 years history of slowly progressive upper limb weakness, predominantly affecting distal muscles, which was uncommon comparing to other CASQ1-related patients. Next-generation sequencing (NGS) analysis revealed a novel heterozygous mutation (c.766G > A, p.Val256Met) in CASQ1. Functional studies confirmed the likely pathogenicity of this variant. Muscle histopathology revealed rare optically empty vacuoles in myofibers and atypical eosinophilic granules in the cytoplasm, which has not been observed before. We also performed a literature review on all the pathogenic mutations in CASQ1 and summarized their genetic and clinical characteristics. This is the first report on CASQ1-related myopathy from China, further expanding the mutation spectrum of CASQ1 gene and provides new insights into the function of CASQ1.

Case of anti‐NT5c1A antibody‐seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness

AbstractWe report a case of an 82‐year‐old woman with inclusion body myositis (IBM), who presented with severe dysphagia, finger flexor weakness, and respiratory dysfunction. In addition, the patient showed prominent forearm weakness with quadriceps sparing and was seropositive for the anti‐cytosolic 5′‐nucleotidase 1A (NT5c1A) antibody. The presence of the anti‐NT5c1A antibody is presumably associated with dysphagia. We speculate that the anti‐NT5c1A antibody is associated with the large discrepancy between distal upper limb weakness and proximal lower limb weakness in IBM.

Responsiveness and trajectory of changes in the rating of everyday arm-use in the community and home (REACH) scale over the first-year post-stroke

Objective To examine the trajectory of the Rating of Everyday Arm-use in the Community and Home (REACH) scores over the first-year post-stroke, determine if REACH scores are modified by baseline impairment level and explore the responsiveness of the REACH scale through hypothesis testing. Design Consecutive sample longitudinal study. Setting Participants were recruited from an acute stroke unit and followed up at three, six, and 12 months post-stroke. Participants Seventy-three participants with upper limb weakness (Shoulder Abduction and Finger Extension score ≤ 8). Main Measures The REACH scale is a six-level self-report classification scale that captures how the affected upper limb is being used in one's own environment. The Fugl-Meyer Upper Limb Assessment (FMA-UL), Stroke Upper Limb Capacity Scale (SULCS), accelerometer-based activity count ratio and Global Rating of Change Scale (GRCS) were used to capture upper limb impairment, capacity, and use. Results The following proportions of participants improved at least one REACH level: 64% from baseline to three months, 37% from three to six months and 13% from six to 12 months post-stroke. The trajectory of REACH scores over time was associated with baseline impairment. Change in REACH had a moderate correlation to change in SULCS and the GRCS but not FMA-UL or the activity count ratio. Conclusions Results of hypothesis testing provide preliminary evidence of the responsiveness of the REACH scale. On average, individuals with severe impairment continued to show improvement in use over the first year, while those with mild/moderate impairment plateaued and a small proportion decreased in the early chronic phase.

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study

BackgroundCongenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted.MethodsWe used a nationwide approach to collect Austrian patients with genetically confirmed CMS. We provide a clinical and molecular characterization of this cohort and aimed to ascertain the current frequency of CMS in Austria.ResultsTwenty-eight cases with genetically confirmed CMS were identified, corresponding to an overall prevalence of 3.1 per million (95% CI 2.0–4.3) in Austria. The most frequent genetic etiology was CHRNE (n = 13), accounting for 46.4% of the cohort. Within this subgroup, the variant c.1327del, p.(Glu443Lysfs*64) was detected in nine individuals. Moreover, causative variants were found in DOK7 (n = 4), RAPSN (n = 3), COLQ (n = 2), GMPPB (n = 2), CHAT (n = 1), COL13A1 (n = 1), MUSK (n = 1) and AGRN (n = 1). Clinical onset within the first year of life was reported in one half of the patients. Across all subtypes, the most common symptoms were ptosis (85.7%), lower limb (67.9%), upper limb (60.7%) and facial weakness (60.7%). The majority of patients (96.4%) received specific treatment, including acetylcholinesterase inhibitors in 20, adrenergic agonists in 11 and 3,4-diaminopyridine in nine patients.ConclusionsOur study presents the first systematic characterization of individuals with CMS in Austria, providing prevalence estimates and genotype–phenotype correlations that may help to improve the diagnostic approach and patient management.