Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B.+3 more
core +1 more source
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett+33 more
core +1 more source
Background Myasthenia gravis is an autoimmune disease mediated by antibodies against proteins associated with the postsynaptic membrane of the neuromuscular junction. Several drugs may trigger an exacerbation of the disease.
Velina Nedkova-Hristova+2 more
doaj +1 more source
Severity classification in cases of Collagen VI-related myopathy with Convolutional Neural Networks and handcrafted texture features [PDF]
Magnetic Resonance Imaging (MRI) is a non-invasive tool for the clinical assessment of low-prevalence neuromuscular disorders. Automated diagnosis methods might reduce the need for biopsies and provide valuable information on disease follow-up. In this paper, three methods are proposed to classify target muscles in Collagen VI-related myopathy cases ...
arxiv +1 more source
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of ...
Manuela Quiroga-Carrillo+3 more
doaj +1 more source
Long-term treatment with subcutaneous immunoglobulin in multifocal motor neuropathy
Multifocal motor neuropathy (MMN) is a rare disease with a prevalence of less than 1 per 100,000 people. Intravenous immunoglobulin (IVIG) therapy, performed for a long-term period, has been demonstrated able to improve the clinical picture of MMN ...
Luca Gentile+6 more
doaj +1 more source
Genetic neuromuscular disease [PDF]
The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders.
Michael G. Hanna, Mary M. Reilly
openaire +3 more sources
A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]
Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie+2 more
core +1 more source
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry+7 more
doaj +1 more source