Pediatric home care is what we do. For more than two decades, PHS has provided compassionate, comprehensive, specialized, high quality in-home care to pediatric patients, no matter what their medical challenges.
A multidisciplinary PHS team collaborates to do everything possible to help our patients with spinal muscular atrophy live life to the fullest – at home.
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Spinal muscular atrophy is a genetic group of diseases that affect the motor neurons of the spinal cord and brain stem. These are the cells that supply electrical and chemical messages to the muscle cells, “telling” them what to do. Because these motor neuron cells do not work properly, the muscle cells fail to function and eventually die. Because the cells cannot function, the muscle cells shrink (atrophy) and become weak. The motor neuron cells are involved in the activities of swallowing, breathing, and movement of the limbs.
SMA is “autosomal recessive,” which means that the disease is inherited by receiving one SMA gene from each parent. The disease may be very severe or relatively benign. Muscle weakness is present in all cases. SMA does not affect intelligence.
There are three types of SMA:
Most mothers talk about abnormal inactivity of the fetus in the latter stages of pregnancy. Babies with SMA type I are inactive and have floppy muscle tone. There is little movement of the extremities; the fingers and toes usually move due to the sparing of the distal musculature. The SMA type I patient is unable to roll over or sit and will experience progressive deterioration. By age two, death usually occurs from complications of the disease usually due to respiratory failure.
These patients generally have normal development for the first four to six months of life. Sitting is a milestone that may be reached; however, these patients are never able to walk. The life span of people with type II SMA is longer than for patients with type I.
These patients often have nearly normal life spans. The usual complaint is difficulty climbing or getting up from the floor. Most experience limited endurance and approximately 30 percent require a wheelchair as an adult.
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