A report of a hereditary proximal spinal muscular atrophy hike

Authors

  • CHEN Hu, LING Yudong, ZHU Wenhua, ZHU Dachun, WANG Jiajin, WANG Anzuo

Keywords:

muscular dystrophy; muscle wasting; pedigree; age of onset; trunk; hereditary disease; neuromuscular system; proximal; report; patient;

Abstract

Hereditary proximal spinal muscular atrophy is a rare genetic disorder of the neuromuscular system. The age of onset is mostly between 1 and 17 years old, and the initial manifestation is muscle atrophy of the lower limbs and trunk, which gradually develops to the whole body. Muscle atrophy is more severe in the proximal end than in the distal end. The patient feels normal, and the course of the disease can be as long as 10 to 40 years.

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Published

2021-11-15

How to Cite

CHEN Hu, LING Yudong, ZHU Wenhua, ZHU Dachun, WANG Jiajin, WANG Anzuo. (2021). A report of a hereditary proximal spinal muscular atrophy hike. Chinese Journal of Medical Genetics, 30(6), 1–12. Retrieved from http://zhyxycx.life/index.php/cjmg/article/view/8

Issue

Vol. 30 No. 6 (2021)

Section

Articles