Biomaterial Database

Fatigue and abnormal neuromuscular transmission in Kennedy's disease. 2003

Matthew N Meriggioli, and Julie Rowin

Dept. of Neurological Sciences, Rush University, 1725 W. Harrison Street, Suite 1106, Chicago, IL 60612, USA. Matthew_N_Meriggioli@rush.edu

We describe a patient with Kennedy's disease (X-linked bulbospinal neuronopathy) who experienced leg muscle fatigue with long-distance running. The patient also reported muscle twitching involving the face and extremities and long-standing muscle cramps. Aside from mild facial and tongue weakness (and fasciculations), his examination was normal, including completely preserved muscle strength in the extremities. Electrodiagnostic evaluation revealed evidence for a chronic motor axonopathy/neuronopathy and abnormal sensory nerve action potentials. In addition, repetitive nerve stimulation studies were normal, but neuromuscular jitter tested in the same muscle was markedly abnormal. The normal clinical strength and repetitive nerve stimulation studies in a muscle showing markedly increased neuromuscular jitter suggested a mechanism for this patient's symptoms of muscle fatigue, related to failure of neuromuscular transmission at a critical number of endplates during extremes of physical activity.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009134	Muscular Atrophy, Spinal	A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)	Bulbospinal Neuronopathy,Oculopharyngeal Spinal Muscular Atrophy,Progressive Muscular Atrophy,Scapuloperoneal Form of Spinal Muscular Atrophy,Spinal Muscular Atrophy,Adult Spinal Muscular Atrophy,Adult-Onset Spinal Muscular Atrophy,Amyotrophy, Neurogenic Scapuloperoneal, New England Type,Distal Spinal Muscular Atrophy,Hereditary Motor Neuronopathy,Muscular Atrophy, Adult Spinal,Myelopathic Muscular Atrophy,Myelopathic Muscular Atrophy, Progressive,Progressive Myelopathic Muscular Atrophy,Progressive Proximal Myelopathic Muscular Atrophy,Proximal Myelopathic Muscular Atrophy, Progressive,Scapuloperoneal Spinal Muscular Atrophy,Spinal Amyotrophy,Spinal Muscular Atrophy, Distal,Spinal Muscular Atrophy, Oculopharyngeal,Spinal Muscular Atrophy, Scapuloperoneal,Spinal Muscular Atrophy, Scapuloperoneal Form,Adult Onset Spinal Muscular Atrophy,Amyotrophies, Spinal,Amyotrophy, Spinal,Atrophies, Progressive Muscular,Atrophy, Myelopathic Muscular,Atrophy, Progressive Muscular,Atrophy, Spinal Muscular,Bulbospinal Neuronopathies,Hereditary Motor Neuronopathies,Motor Neuronopathies, Hereditary,Motor Neuronopathy, Hereditary,Muscular Atrophies, Progressive,Muscular Atrophy, Myelopathic,Muscular Atrophy, Progressive,Neuronopathies, Bulbospinal,Neuronopathies, Hereditary Motor,Neuronopathy, Bulbospinal,Neuronopathy, Hereditary Motor,Progressive Muscular Atrophies,Spinal Amyotrophies
D004576	Electromyography	Recording of the changes in electric potential of muscle by means of surface or needle electrodes.	Electromyogram,Surface Electromyography,Electromyograms,Electromyographies,Electromyographies, Surface,Electromyography, Surface,Surface Electromyographies
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D018763	Muscle Fatigue	A state arrived at through prolonged and strong contraction of a muscle. Studies in athletes during prolonged submaximal exercise have shown that muscle fatigue increases in almost direct proportion to the rate of muscle glycogen depletion. Muscle fatigue in short-term maximal exercise is associated with oxygen lack and an increased level of blood and muscle lactic acid, and an accompanying increase in hydrogen-ion concentration in the exercised muscle.	Fatigue, Muscle,Muscular Fatigue,Fatigue, Muscular
D020511	Neuromuscular Junction Diseases	Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.	Neuromuscular Junction Disorders,Neuromuscular Junction Toxic Disorders,Neuromuscular Transmission Disorders,Toxic Disorders, Neuromuscular Junction,Neuromuscular Junction Disease,Neuromuscular Junction Disorder,Neuromuscular Transmission Disorder