Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly progressive muscle disorder typically showing...

An 8-year-old male Japanese Shiba exhibited muscle wasting and a stiff gait. A low-amplitude myotonic discharge was recorded by needle electromyography (EMG). A histopathological examination on a tru-cut biopsy sample from the muscle revealed myofiber size variations. Internal nuclei and...

Myotonia is a clinical sign characterized by a delay in skeletal muscle relaxation following electrical or mechanical stimulation. 17 related miniature schnauzer dogs, 8 of which had congenital myotonic myopathy, were studied. A composite pedigree of 6 affected litters and the results of a planned...

Background: The recognition of functional muscular disorders, (e.g. channelopathies like Myotonia) is rising in veterinary neurology. Morphologic (e.g. histology) and even genetic based studies in these diseases are not able to elucidate the functional pathomechanism. As there is a deficit of...

Neuromuscular diseases are characterized by a permanent or episodic peripheral motor neuron disorder, and result from lesions in one of elements of the motor unit: the motor neuron, the neuromuscular junction or the muscle fibres. The majority of hereditary neuromuscular diseases affect juveniles...

Objective: To develop a molecular genetic test to detect the mutant skeletal muscle chloride channel (CIC-1) allele that causes myotonia congenita in Miniature Schnauzers and to analyse the relationship of affected and carrier dogs. Animals: 372 Miniature Schnauzers from the United States, Canada,...

The objective of this study was to screen a dog population from Belgium, the Netherlands and Germany for the presence of mutant alleles associated with hip dysplasia (HD), degenerative myelopathy (DM), exercise-induced collapse (EIC), neuronal ceroid lipofuscinosis 4A (NCL), centronuclear myopathy...

This book contains 12 topics related to neuromuscular diseases in dogs and cats. The topics include clinical examination for neuromuscular disease, electrophysiology, muscle and nerve biopsy, muscular dystrophies and other related myopathies, neuromuscular complications in endocrine and metabolic...

This paper describes a regional curare test performed in a dog suffering from myotonia and hyperadrenocorticism. The test prevented innervation to the pronator teres muscle of the left limb and allowed electrical activity to be observed in the muscle without the need for a general neuromuscular...

This review article describes human myotonia and canine myotonia and describes diagnostic methods including laboratory studies, electrodiagnostics, muscle biopsy and therapy.