Motor neuron diseases dystrophy

Human creatine kinase -MM MAK33 IgGl Cardiac disease, mitochondrial disorders, inflammatory myopathies, myasthenia, polymyositis, McArdle s disease, NMJ disorders, muscular dystrophy, ALS, hypo and hyperthyroid disorders, central core disease, acid maltase deficiency, myoglobinuria, rhabdomyolysis, motor neuron diseases, A. thaliana A. thaliana 2S2 seed storage protein SP + 0.02-0.4% TSP of fresh leaf extract (10-12% TSP of intercellular fluid) 52... 

Diseases of muscle are usually classified as muscular dystrophies, inflammatory or congenital myopathies, metabolic disorders affecting the muscle, and neurological diseases affecting the innervation of the muscle (so-called motor neuron diseases). In the past, the energy metabolism of some muscular diseases... 

Key words Motor neuron diseases, amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), peripheral neuropathies, Charcot-Marie-Tooth diseases, hereditary motor and/or sensory neuropathies (HSMNs), congenital myasthenic syndromes, neuromuscular junction, muscular dystrophies, Duchenne s disease. 

Use of rating scales for different symptoms has been also recommended. Dougan et al. (23) developed the motor neurone disease dyspnea rating scale, consisting of 16 questions, each rated on a five-point scale that allows patients with ALS to quantify how dyspnea affects their daily life. This specific questionnaire may be more appropriate for quantifying dyspnea in neuromuscular patients compared with other existing measures, such as the Medical Research Council dyspnea scale (24). Moreover, one of the most commonly used sleepiness scales, the Epworth Sleepiness Scale, may not be as reliable in conditions with such myotonic dystrophy (25). 

Figure 3 Percentage of users in each disease category by country. The symbol represents lung/ airways (COPD, cystic fibrosis, bronchiectasis, pulmonary fibrosis, and pediatric diseases) , chest wall deformities (kyphoscoliosis, old TB, OHS, surgical resection) and , neuromuscular disorders (muscular dystrophy, motor neuron disease, post-polio kyphoscoliosis, central hypoventilation, spinal cord damage, and phrenic nerve palsy). Abbreviations COPD, chronic obstructive pulmonary disease TB, tuberculosis OHS, obesity hypoventilation syndrome. Source From Ref. 15.

Generally a much more limited increase in serum creatine kinase is encountered in the adult form of muscular dystrophy and in myotonic dystrophy. It is normally raised in untreated cases of polymyositis, and the level may be very high. Typical data are provided by Pearce et al [113] and other workers. It was at one time considered that little or no rise in serum creatine kinase occurred in muscle diseases of recognized neurogenic origin, but modest increases have been recorded in Kugelberg-Welander disease and spastic spinal paralysis [115] and in motor neurone disease [116]. Elevated values may occur also in hyperkalaemic and hypokalaemic myopathies [117, 118]. 

---