1,721,083 research outputs found
Current Therapy for Charcot-Marie-Tooth Disease.
No full textCharcot-Marie-Tooth (CMT), or heritable peripheral neuropathies, is among the most frequent genetic neuromuscular disorders, with a prevalence of approximately 1:2500. Since 1991, remarkable advances have occurred in determining the precise genetic cause of many forms of CMT and in generating animal models of many of these disorders. However, these advances have not yet resulted in cures for CMT. Recently, potential treatments for the most common form of CMT, CMT-1A, have been shown in rodent models of the disorder. Treatment with onapristone, a progesterone antagonist, has improved the neuropathy of the CMT-1A rat. Treatment with large doses of ascorbic acid (vitamin C) has improved the neuropathy of the CMT-1A mouse. Multicentric trials with ascorbic acid are likely to start in the near future to assess if vitamin C supplementation is effective and what is the dosage required in humans to improve neurologic disability. Because of potential side effects with antiprogesterone therapy, particularly in women of child- bearing age, research is actively proceeding with progesterone antagonists to develop safe medications that also can be used in clinical trials of CMT-1A. Although no cures are available for CMT, there are many important treatments available for patients with CMT that can improve their quality of life and help them maintain their independence. Some of these therapies involve physiatry and orthopedic surgery. Others involve pain management. Lastly, there are potential concerns about medications or lifestyle issues that may exacerbate CMT. All of these issues will be discussed
Glycans of myelin proteins.
No full textP0 is a myelin glycoprotein of the peripheral nervous system (PNS). It can bind as many as 6
different glycans, all at its one and unique glycosylation site, Asn93.This is in contrast to other
myelin glycoproteins which have also one glycosylation site: PMP22 at Asn36, MOG at
Asn31, but can bind only one glycan type containing usually HNK-1 epitope. The MAG has
10 glycosylation sites, and glycoprotein OMpg has 11 glycosylation sites, some of them
contain HNK-1 epitope. The HNK-1 epitope is involved in cell interactions that controls cell
type-specific neurite outgrowth, regeneration, myelin stability and is target for autoimmune
IgM antibodies in human demyelinating neuropathies of the PNS. Beside myelin P0
glycoprotein, no data are available on other myelin glycoproteins. In this paper we review
and analyze all published data on the chemical structure of glycans containing HNK-1
epitopes or sialic acid of bovine P0, PMP22, MOG and MAG. For bovine P0, the MW of
glycan is in the range of 1294.56(GP3) Da - 2279.94(GP5) Da. The pI of glycosylated P0
protein varies from pH 9.32-9.46. The most charged is a glycan MS2 containing 3 sulfate
groups and one glucuronic acid; the less charged is glycan BA2. All glycans contain 1 fucose
and 1 galactose. The most mannose rich are MS2 and GP4, each has 4 mannoses; OPPE1
contains 5 N-acetylglucosamines and 1 sulfated glucuronic acid, GP4 contains 1 sialic acid
The suspected SARS-Cov-2 infection in a Charcot-Marie-Tooth patient undergoing postsurgical rehabilitation: the value of telerehabilitation for evaluation and continuing treatment
No full textWe report, to the best of our knowledge, the first case of a probable COVID-19 infection in a 28-year-old man with Charcot-Marie-Tooth disease. The diagnosis was established through a remote interaction with the patient after early discharge from outpatient therapy due to upcoming traveling restrictions. The COVID-19 disease appeared mild, without major respiratory problems, and no obvious neuromuscular deterioration was reported or observed. Telerehabilitation provided an opportunity to continue with hand rehabilitation after tendon transfer surgery, perform an ad-hoc online evaluation, and advise the patient how to prevent the spread of infection and cope with restrictions limiting outpatient visits. This experience seems valuable for further development of telerehabilitation in anticipation of future pandemics or adversarial events since it allows reaching out to patients unable to travel and overcomes the need for regular outpatient visits
Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature
No full textAim: Parsonage-Turner syndrome, also known as neuralgic amyotrophy affects the brachial plexus and includes idiopathic (INA) and rare hereditary forms (HNA). Mutations in the SEPTIN9 gene, which encodes a cytoskeletal GTPase, have been implicated in HNA. While Parsonage-Turner syndrome is typically adult-onset, with stress often acting as a trigger, the presentation in children is less acknowledged. Methods: We report a case of 9-year-old girl with brachial plexus neuritis who carries a SEPTIN9 missense mutation inherited from her father. We conducted a literature review to explore early-onset cases and gain insight into the disease's progression over time. Results: Patient presented with episodic intense pain and severe weakness in her right upper limb since age 5 years. Central nervous system involvement and inflammatory polyneuropathy were excluded. Neurological assessment showed weakness and muscle atrophy in the right shoulder girdle. Dysmorphic features, such as long nasal bridge, hypertelorism, and epicanthal folds, were also noted. Her father reported a similar episode in the past without investigations. SEPTIN9 gene sequencing revealed the missense mutation (c.262C>T; p.Arg88Trp) in both individuals. The review of 109 patients with hereditary neuropathy linked to SEPTIN9 mutations revealed a mean age of onset at 13 years, though the average time from symptom onset to diagnosis was 22 years. The syndrome typically follows a relapsing-remitting course, but monophasic and progressive forms are also described. Conclusion: Clinicians should consider HNA in children with asymmetric upper limb weakness and dysmorphic features, especially with a family history of upper limb neuralgia. Early diagnosis can improve long-term outcomes and avoid unnecessary tests
How to define and enhance diagnostic and assistance pathways in neuromuscular diseases during the COVID-19 pandemic: the concept of network
No full textThe main consequence of the COVID-19 pandemic has been to increase the distance between patients and their doctors and to limit the opportunities to compare experiences and clinical cases in the medical community. Based on this, we adopted a strategy to create networks with the ambition to break down these distances and to unify the process of care and management. Here we report the results and perspectives of our efforts and studies. A summary of the presentations on the topic, held during the webinars organized for macro-areas by the Italian Association of Myology with the aim of raising awareness among "non-expert doctors" who deal with neuromuscular disorders in the era of COVID-19 was collected and here reported. Although the macro-areas responded in different way to the problems of neuromuscular patients in the era of COVID-19, they all have tried to create a network between doctors and opportunity for education and information, with the secondary outcome to have shared process of care and management. Telemedicine, virtual meetings and the strengthening of national and international networks, through research projects, were the nodal and common points. Due to their complexity, neuromuscular diseases had already taught clinicians the importance of multidisciplinary confrontation. COVID-19 has further strengthened the need to create links between clinicians and experts, even of different nationalities, in order to guarantee to patients the best possible care, but above all, access and continuity of care even in critical periods. Adequate answers have been given to these problems, though there is still a lot to improve
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease
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