Rev Neurol France
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Stiff-Man syndrome (SMS) is a rare neurological disease first described fifty years ago. There are several clinical forms, which are frequently misdiagnosed. The aim of this study is to review three of the main clinical forms. ⋯ Identifying patients with SMS makes it possible to propose appropriate medical management. There are several forms of the disease, and the severity of the evolution differs in each case. Treatment with GABA-ergic inhibitory drugs, IVIg and corticosteroid improve both the symptomatology and the quality of life of these patients.
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Amyotrophic lateral sclerosis is a neurodegenerative disease, without any curative treatment. Clinical expression is variable and related to loss of motor neurons in the cortex, brain stem and spinal cord. ⋯ Only stretching exercises, proprioceptive neuromuscular facilitation techniques and functional mobility training seem to have a real benefit in terms of spasticity, quality-of-life and pain. The main objective of physical therapy appears to be the preservation of optimal quality-of-life throughout the course of this incurable degenerative disease.
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Respiratory muscle weakness represents the major cause of mortality in patients with amyotrophic lateral sclerosis (ALS). As a result, ventilatory assistance is an important part of disease management. ⋯ Although, some consensus guidelines have been proposed to initiate NIV in patients with restrictive chronic respiratory failure, these criteria are discussed regarding ALS. While the current consensus recommends that NIV may be used in symptomatic patients with hypercapnia or forced vital capacity<50p.cent of predicted value, early use of NIV is proposed in the literature and reported in this paper.
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Between 10 percent and 20 percent of amyotrophic lateral sclerosis cases are familial (FALS). The announcement of a diagnosis of ALS to a patient having relatives already affected with this disease must take into account the familial history and should focus on the improvement in management of ALS patients. Diagnosis of FALS implicitly raises the notion of genetic factors and the possibility for an heritability of the disease (risk of ALS for relatives). Although it is possible to search for mutations in SOD1 gene in ALS patients and asymptomatic relatives, the incomplete penetrance of the disease, the low percentage (10 to 20 percent) of FALS linked to SOD1 mutation and the existence of non causal SOD1 mutations complicate the conclusions of genetic investigations concerning the real risk for a relative with a SOD1 mutation to develop ALS.