Neuromuscular disorders : NMD
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Neuromuscul. Disord. · May 2021
Case ReportsThird case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.
Duchenne muscular dystrophy is an X-Linked neuromuscular disorder, and the most common muscular dystrophy. Neuropsychiatric phenotype associated to DMD gene mutations include now low IQ scores, epilepsy, autism, and attention deficit disorder. ⋯ West syndrome has been previously reported in two unrelated patients with Duchenne muscular dystrophy. Here, we report the third patient with West syndrome who had a novel hemizygous nonsense pathogenic variant in the exon 8 of the DMD gene c.811C>T, p.(Gln271*), suggesting West syndrome as part of the neuropsychiatric spectrum in Duchenne muscular dystrophy.
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Myasthenia gravis is characterized by muscle weakness and fatigue. As sustained muscle use increases the weakness, the value of physical training programs has previously been questioned. This is a review to clarify the safety and usefulness of systematic training in myasthenia gravis, based on a systematic search in available databases using the relevant key words. ⋯ This can improve both muscle strength and daily function. Type and intensity of systematic training should be adapted in the individual patient. A minimum of 150 min of exercise per week is recommended for myasthenia gravis patients with mild and moderate disease.
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Neuromuscul. Disord. · Mar 2021
Nusinersen treatment of older children and adults with spinal muscular atrophy.
The purpose of this study was to determine how effective administration of nusinersen was at improving motor function in older adolescent and adult patients with spinal muscular atrophy, using standardized motor outcome measures. Data were gathered through a retrospective chart review of older spinal muscular atrophy patients (ages 5-58) being treated at Rady Children's Hospital and the University of California, San Diego with nusinersen from April 2017-June 2019. Linear mixed effects analyses found that, for older children and adult patients with SMA 1, 2, and 3, motor scores as measured by the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders for non-sitters improved by 6 points (p = .01) and the Hammersmith Infant Neurological Examination-2 by 2.6% (p = .008) over the 22-month study period. ⋯ Older spinal muscular atrophy patients (5-58 years) being treated with nusinersen at our institutions are improving. Not only have symptoms stabilized, but their motor function has shown incremental improvements. Based on the results of this study, we suggested that nusinersen is well-tolerated and efficacious when treating older children and adult patients with spinal muscular atrophy 1, 2, and 3.
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Neuromuscul. Disord. · Jul 2020
Review Case ReportsAChR myasthenia gravis switching to MuSK or double antibody positive myasthenia gravis in two children and literature review.
Muscle-specific tyrosine kinase antibody (MuSK-Ab) and acetylcholine receptor antibody (AChR-Ab) coexistence in myasthenia gravis (MG) is very rare. In this report, two children with AChR-Ab switching to double antibody positive MG (DP-MG) or MuSK-Ab positive MG (MuSK-MG) are described. Six similar cases were found in the literature via online database search. ⋯ The average age of onset was 7.25 ± 5.95 years. Four AChR-MG patients switched to DP-MG with no known precipitating factor and four switched after thymectomy (two to MuSK-MG and two to DP-MG). After the serological switch, the patients transitioned to the phenotype of MuSK-MG and responded poorly to cholinesterase inhibitors and well to corticosteroids and plasma exchange.
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Neuromuscul. Disord. · Jan 2020
Case ReportsNivolumab and Ipilimumab-induced myositis and myocarditis mimicking a myasthenia gravis presentation.
The rapidly growing field of cancer immunotherapy has led to the development of new treatments such as immune checkpoint inhibitors. These agents are monoclonal antibodies that enable tumor-reactive T cells to overcome regulatory mechanisms and produce effective antitumor responses. The use of immune checkpoint inhibitors is expected to progressively increase because they have shown promising therapeutic outcomes in multiple types of cancer and clinicians should be aware of their possible side-effects. ⋯ He subsequently developed binocular diplopia, fatigue, mild dyspnea and upper back pain resembling a myasthenia gravis presentation. Finally, a diagnosis of immune checkpoint inhibitor-related myositis and myocarditis was made. The detection of GFAP antibodies in CSF has unclear clinical and pathogenic significance and they may rather represent an epiphenomenon of the immune inflammation process.