Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder related to motor neuron degeneration. SMA patients present generally severe muscular weakness and atrophy, which can ...reduce life expectancy and lead to severe functional disability. In recent years, the management of this condition has been revolutionized by the development of innovative therapies that target alternative splicing of pre-messenger SMN2 RNA by antisense oligonucleotides or small molecules and by the approval of the first vector-based SMN1 gene therapy. The high significance of the trials in children led to fast-tracking of these therapies to all SMA patients despite the absence of data in adults. Real-life data are progressively providing a better understanding of the expected benefits and tolerability. They also highlight the difficulties of evaluating these patients and the need to take into account the patients’ reported expectations and outcome. A review of the main data in adult patients is presented. The mechanisms of action of these innovative therapies are discussed as well as the limits of evaluations of these therapies in adults with longstanding severe amyotrophy.
Within lower motor neuron diseases, benign focal amyotrophy is a rare syndrome characterized by insidious neurogenic asymmetric atrophy restricted to upper or lower limbs with a good prognosis over ...time. Described under several terms, the nosology is probably heterogeneous. In juvenile distal upper-limbs forms, specific MRI signs with in particular a compression of the spinal cord by forward displacement of dura, lead to evoke a mechanical process. In other forms, occurring later in the life, affecting proximal part of upper limbs or lower limbs, the physiopathology is still unknown and a focal spinal muscular atrophy is suspected. In this review, we will discuss the clinical, electrophysiological and radiological features of each presentation.
Neurologic disorders, mainly Guillain-Barré syndrome and Parsonage–Turner syndrome (PTS), have been described in patients with hepatitis E virus (HEV) infection in industrialized and developing ...countries. We report a wider range of neurologic disorders in nonimmunocompromised patients with acute HEV infection. Data from 15 French immunocompetent patients with acute HEV infection and neurologic disorders were retrospectively recorded from January 2006 through June 2013. The disorders could be divided into 4 main entities: mononeuritis multiplex, PTS, meningoradiculitis, and acute demyelinating neuropathy. HEV infection was treated with ribavirin in 3 patients (for PTS or mononeuritis multiplex). One patient was treated with corticosteroids (for mononeuropathy multiplex), and 5 others received intravenous immunoglobulin (for PTS, meningoradiculitis, Guillain-Barré syndrome, or Miller Fisher syndrome). We conclude that pleiotropic neurologic disorders are seen in HEV-infected immunocompetent patients. Patients with acute neurologic manifestations and aminotransferase abnormalities should be screened for HEV infection.
L’ENMG est l’examen fondamental du diagnostic de PIDC permettant d’identifier le processus démyélinisant. Cependant, l’utilisation de ces paramètres électrophysiologiques dans le suivi thérapeutique ...reste plus délicate. Depuis une vingtaine d’années, une meilleure connaissance des conséquences physiopathologiques des phénomènes de démyélinisation permet de considérer ces altérations de conductions comme des modifications focales de l’excitabilité axonale en lien avec des dysfonctions secondaires des canaux ioniques. Ces éléments permettent d’expliquer les limites des techniques électrophysiologiques conventionnelles dans le suivi des patients et laissent envisager la possibilité d’utiliser des manœuvres d’examen dynamiques ayant pour objet de potentialiser ces altérations de l’excitabilité.
Nerve conduction studies providing insight into demyelinating process are essential for the diagnostic of chronic inflammatory demyelinating polyradiculoneuropathy. For the diagnostic, several sets of electrophysiologic criteria have been established. To assess the response to treatment, nerve conduction studies are often used in trials and in clinical practice. Nevertheless, the useful of these classical electrophysiologic techniques is debated because of their lack of sensibility and specificity. In the last 20 years, several works have showed that dysfunction of channels and pump of the axonal membrane at the site and around the site of the conduction block can precipitate conduction failure and produce weakness. These important features explaining clinical status are not correctly assessed by conventional nerve conduction studies. New nerve conduction examinations in dynamic conditions can explore these hyperexcitability modifications.
Hirayama disease is a rare cervical myelopathy predominantly affecting young adults and mainly found in Asia. It results in a pure motor distal lesion of the upper limbs with slow progression. ...Dynamic magnetic resonance imaging (MRI), which allows the diagnosis to be made, shows a typical appearance of anterior compression of the cervical spinal cord associated with enlargement of the posterior epidural spaces due to a dilated venous plexus. Surgery is considered when conservative treatment has failed. However, the type of surgery is not well standardized in this compressive myelopathy.
We report on three patients with Hirayama disease operated using an original method: cervical decompressive laminectomy and coagulation of the posterior epidural plexus without fixation. The clinical, radiological and surgical data of these three patients were analyzed. Each patient underwent postoperative MR imaging.
The mean age at diagnosis was 18.6 years (16–20 years) with a history of progressive symptoms lasting 1 to 4 years before treatment. Follow-up was 21 to 66 months after surgery. Neurological and electrophysiological improvement was noted in two patients; the third had stabilized. Postoperative MRI confirmed normalization of flexion imaging on MRI. None of the three patients complained of disabling neck pain.
Posterior cervical decompression with coagulation of epidural venous plexus is a technique that seems effective in Hirayama disease in young subjects. It effectively treats patients by avoiding permanent cervical fixation.
In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a ...degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory. Hospitalization should be reserved for emergencies, the conduct of treatments that cannot be postponed, check-ups for which the diagnostic delay may result in a loss of survival chance, and cardiorespiratory assessments for which the delay could be detrimental to the patient. A national strategy was adopted during a period of 1 to 2months concerning treatments usually administered in hospitalization. NM patients treated with steroid/immunosuppressants for a dysimmune pathology should continue all of their treatments in the absence of any manifestations suggestive of COVID-19. A frequently asked questions (FAQ) sheet has been compiled and updated on the FILNEMUS website. Various support systems for self-rehabilitation and guided exercises have been also provided on the website. In the context of NM diseases, particular attention must be paid to two experimental COVID-19 treatments, hydroxycholoroquine and azithromycin: risk of exacerbation of myasthenia gravis and QT prolongation in patients with pre-existing cardiac involvement. The unfavorable emergency context related to COVID-19 may specially affect the potential for intensive care admission (ICU) for people with NMD. In order to preserve the fairest medical decision, a multidisciplinary working group has listed the neuromuscular diseases with a good prognosis, usually eligible for resuscitation admission in ICU and, for other NM conditions, the positive criteria suggesting a good prognosis. Adaptation of the use of noninvasive ventilation (NIV) make it possible to limit nebulization and continue using NIV in ventilator-dependent patients.
It has been shown that hepatitis E virus (HEV) may be responsible for chronic hepatitis in solid‐organ transplant patients. It has also been suggested that HEV may be responsible for atypical ...neurological symptoms during the acute phase. However, the relationship between the neurological symptoms and HEV infection was based on the detection of anti‐HEV IgM in the sera. Herein, we report a case where neurological symptoms, that is peripheral nerve involvement with proximal muscular weakness that affected the four limbs joints with central nervous‐system involvement and bilateral pyramidal syndrome, occurred in a kidney‐transplant patient who was chronically infected by HEV. For the first time, HEV RNA was detected in the serum and cerebrospinal fluid. In addition, clonal HEV sequences were analyzed in both compartments, that is serum and cerebrospinal fluid. The discovery of quasispecies compartmentalization and its temporal association suggests that neurological symptoms could be linked to the emergence of neurotropic variants.
This kidney transplant patient chronically infected with HEV manifested major peripheral nerve involvement with proximal muscle weakness as well as CNS involvement with a bilateral pyramidal syndrome.
•Median CMAP amplitude showed the best improvement between baseline and M12.•High median CMAP amplitude at baseline was associated with unaided sitting at M6.•CHOPINTEND<30/64 and median CMAP<0.5 mV ...at M0 implied no unaided sitting at M6.•This result was confirmed on a second independent cohort.
Spinal muscular atrophy 1 (SMA1) is a severe early genetic disease with degeneration of motor neurons. Motor development is still suboptimal after gene replacement therapy in symptomatic patients. In this study, compound muscle action potential (CMAP) amplitudes were explored as predictors of motor recovery after gene therapy. Thirteen symptomatic SMA1 patients were prospectively included at the Necker Enfants Malades Hospital, Paris, France (Cohort 1) and 12 at the other pediatric neuromuscular reference centers of the French Filnemus network (Cohort 2). In Cohort 1, median CMAP amplitudes showed the best improvement between baseline and the 12 months visit compared to the other tested nerves (ulnar, fibular and tibial). High median CMAP amplitudes at baseline was associated with unaided sitting achievement at M6 (AUC 90%). None of the patients with CHOPINTEND at M0 < 30/64 and median CMAP < 0.5 mV achieved unaided sitting at M6 and this result was confirmed on Cohort 2 used as an independent validation data. Thus, median CMAP amplitude is a valid biomarker for routine practice to predict sitting at M6. A median CMAP amplitude over 0.5 mV at baseline may predict better motor recovery.
In memory of Vladimir Olegovich Abramov Argirusis, C.; Bianchi, C.L.; Boffito, D. ...
Ultrasonics sonochemistry,
March 2023, 2023-03-00, 2023-03-01, Letnik:
94
Journal Article
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