Search results for "Muscular Disorders"
showing 5 items of 5 documents
Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?
2021
Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disord…
Sex differences in neuromuscular disorders
2023
: The prevalence, onset, pathophysiology, and clinical course of many neuromuscular disorders (NMDs) may significantly differ between males and females. Some NMDs are more frequently observed in females, and characterized to show a higher grade of severity during or after the pregnancy. Meanwhile, others tend to have an earlier onset in males and exhibit a more variable progression. Prevalently, sex differences in NMDs have a familiar character given from genetic inheritance. However, they may also influence clinical presentation and disease severity of acquired NMD forms, and are represented by both hormonal and genetic factors. Consequently, to shed light on the distinctive role of biolog…
Allopurinol partially prevents disuse muscle atrophy in mice and humans
2018
AbstractDisuse muscle wasting will likely affect everyone in his or her lifetime in response to pathologies such as joint immobilization, inactivity or bed rest. There are no good therapies to treat it. We previously found that allopurinol, a drug widely used to treat gout, protects muscle damage after exhaustive exercise and results in functional gains in old individuals. Thus, we decided to test its effect in the prevention of soleus muscle atrophy after two weeks of hindlimb unloading in mice, and lower leg immobilization following ankle sprain in humans (EudraCT: 2011-003541-17). Our results show that allopurinol partially protects against muscle atrophy in both mice and humans. The pro…
Long-Term Ventilation in Neuromuscular Patients: Review of Concerns, Beliefs, and Ethical Dilemmas
2019
<b><i>Background:</i></b> Noninvasive mechanical ventilation (NIV) is an effective treatment in patients with neuromuscular diseases (NMD) to improve symptoms, quality of life, and survival. <b><i>Summary:</i></b> NIV should be used early in the course of respiratory muscle involvement in NMD patients and its requirements may increase over time. Therefore, training on technical equipment at home and advice on problem solving are warranted. Remote monitoring of ventilator parameters using built-in ventilator software is recommended. Telemedicine may be helpful in reducing hospital admissions. Anticipatory planning and palliative care should be …
Neuromuscular disorders and non compaction: How much is the strength of the association and how can it be suspected?
2009
In many reports Finsterer and Stöllberger reported a strong association between non compaction of the left ventricle and neuromuscular disorders. In the same report the authors described a neurological involvement in more than 50%. Recently we published our personal experience, about 21 paediatric patients: only 4 patients (19%) showed a neuromuscular disorder, and only 1 of them showed an increased plasmatic level of CK, and in particular of MM isoform, with a normal level of CK-MB. None presented high levels of troponine. Through the experience of 3 centres we collected 61 patients affected by non compaction that performed a neurological control, and only 14 (21%) were affected by neuromu…