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Adult onset spinal muscular atrophy

Spinal muscular atrophy SMA types 1 through 4 all result from a single known cause — a deficiency of a protein called SMN, which stands for " survival of motor neuron. Deficiency of SMN protein occurs when a mutation flaw is present in both copies of the SMN1 gene — one on each chromosome 5. Normally, most of the proteins made from SMN1 genes is full-length and functional, but when mutations occur, little or no full-length, functional SMN protein is produced. The number of SMN2 gene copies varies from person to person.
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Adult Spinal Muscular Atrophy: Symptoms

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Adult SMA (Type 4) Symptoms

Back to Spinal muscular atrophy. There are several different types of spinal muscular atrophy SMA , which start at different ages. Most babies with type 1 SMA die during the first few years of life, usually as a result of serious breathing difficulties. Children with type 2 SMA usually show symptoms when they're 7 to 18 months old.
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Spinal Muscular Atrophy Type 4

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.
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Have you been easily fatigued for most of your life? Do you wonder how people around you keep their balance so effortless when you have to work so hard sometimes to keep from falling? Are you more of a sports fan than a participant because you get so winded so quickly? Fatigue, trouble breathing, and leg weakness are symptoms of adult-onset SMA. For many people, these symptoms are nothing more than the genetic luck of the draw.
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