Progressive muscular atrophy

Cosottini M, Giannelli M, Siciliano G, Lazzarotti G, Michelassi MC, Del Corona A, Bartolozzi C, Muni L (2005) Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. Radiology 237 258-264. 

The quantity of creatinin eliminated is slightly greater than that of uric acid, 0.6-1.3 gram (9.35-20 grains) in 34 hours. It is not increased by muscular exercise, but is diminished in progressive muscular atrophy. It is obtained from the urine by precipitation with zinc chlorid. 

Bramwell (1931), p. 92. Bramwell also documented cases of lead encyphel-opathy being mistaken for a brain tumor, and lead poisoning simulating gastric ulcer and progressive muscular atrophy. 

Engel WK, Hopkins LC, Rosenberg BJ. (1985) Fasci-culating progressive muscular atrophy (F-PMA) remarkably responsive to anti-dysimmune treatment (ADIT)-a possible clue to more ordinary ALS Neurology 35, 72. 

Engel WK. (1995) Rapid and continued improvement from intravenous immunoglobulin treatment of asymmetrical chronic progressive muscular atrophy after 19 years of disease progression. Ann Neurol 38, 333-334. 

Huntington disease (HD) is the prototypic disease caused by expansion of unstable GAG repeat. It primarily affects striatal neurons. It is a mid-life onset disorder characterized by unvoluntary movements (chorea), personality changes and dementia that progress to death within 10-20 years of onset. There are currently no treatment to delay or prevent appearance of the symptoms in the patients. Other diseases in this class include spinocerebellar ataxias (SCA) 1, 2, 3 (also known as Machado-Joseph disease, MJD), 6, and 7, DRPLA, and spinobulbar muscular atrophy (SMA, also known as Kennedy s disease) (Zoghbi and Orr 2000). 

Another motor neuron disease, which is rare and x-linked inheritance, shows certain similarities with ALS but has a much more benign course. It is so-called Kennedy s disease or x-linked spino-bulbar muscular atrophy (X-SBMA). It is caused by a mutation of the androgen receptor gene. A progressive spinal. 

The disease models can be grouped into four primary categories (Fig. 20.1). (1) Motor neuron diseases, in which the death of motor neuron somata in the spinal cord results in denervation of the muscles, progressive flaccid paralysis, and usually premature death. In humans, examples of such diseases would include amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). (2) Peripheral neuropathies, in which axonal integrity or conduction is not maintained, resulting in axon degeneration and impaired connectivity of the nervous system and the musculature. 

Motor neuron disease is also known as amyotrophic lateral sclerosis. It is a condition in which there is loss of spinal motor neurons and neurons of descending motor pathways from pyramidal cells of the cerebral cortex. The disease results in rapidly progressing muscular weakness, muscle atrophy, fasciculations, spasticity, difficulty speaking. 

Mutations in the AR cause resistance to the actions of testosterone and dihydrotestosterone. Male sexual differentiation and pubertal development therefore are incomplete. Other AR mutations occur in patients who have spinal and bulbar muscular atrophy, known as Kennedy s disease. These patients have an expansion of the CAG repeat, which codes for glutamine, at the amino terminus of the AR they exhibit very mild androgen resistance—manifest principally by gynecomastia—but progressively severe motor neuron atrophy, the basis of which is poorly understood. 

The early symptoms of beriberi include fatigue, irritability, poor sleep habits, memory loss, abdominal pain, loss of appetite, and constipation. As the disease progresses, it may produce damage to the peripheral nervous system that serves the arms, legs, feet, and hands, resulting in muscular atrophy (weakness and wasting of the muscles) and loss of sensation in the toes. 

Several laboratories have reported increases of skeletal muscle lysosomal proteinases in starvation, denervation, and various myopathies 56, 81, 96, 97). Muscular dystrophy is characterized by progressive muscular weakness and atrophy of the muscles. In dys-... 

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