Spinal Muscular Atrophy With Respiratory Distress type 1

Summarized by Plex Health
Last Updated: 02 May 2022

Spinal muscular atrophy with respiratory distress type 1 is an inherited condition that causes muscle mass weak point and respiratory failure typically starting in early stage. Generally between the ages of 6 weeks and 6 months, infants with this problem will experience an abrupt lack of ability to take a breath due to paralysis of the muscle that divides the abdomen from the upper body cavity. With diaphragm paralysis, affected individuals call for life-long assistance with a machine to aid them take a breath. Hardly ever, children with SMARD1 develop signs or symptoms of the disorder later on in childhood. Right after respiratory failure happens, people with SMARD1 develop muscular tissue weakness in their distal muscular tissues. The weakness soon spreads to all muscular tissues; nonetheless, within 2 years, the muscle mass weakness commonly quits becoming worse. Some individuals might keep a low degree of muscle mass function, while others lose all capability to move their muscles. After about the first year of life, individuals with SMARD1 might lose their deep ligament reflexes, such as the response being tested when a physician taps the knee with a hammer.

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