Spinal Muscular Atrophy (SMA)

Diagnosis

The first steps in diagnosis of a neuromuscular disease are usually an in-office physical examination and family history, with some simple tests to distinguish spinal muscular atrophy (SMA) from similar conditions (such as muscular dystrophy).

Signs and Symptoms

SMA linked to chromosome 5 (SMN-related), types 1-4

In SMA types 1 through 4, symptoms vary on a continuum from severe to mild, based on how much SMN protein there is in the nerve cells called motor neurons. (SMN stands for survival of motor neuron.) The more SMN protein there is, the later in life symptoms begin and the milder the course of the disease is likely to be. 

Forms of SMA

SMA linked to chromosome 5

Spinal muscular atrophy types 1 through 4 all result from a single known cause — a deficiency of a protein called SMN, 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 protein made from SMN1 genes is full-length and functional, but when mutations occur, little or no full-length, functional SMN protein is produced.

Overview

What is spinal muscular atrophy?

Muscles affected in SMA
The muscles closer to the center of the body (proximal muscles) are usually more affected in spinal muscular atrophy than are the muscles farther from the center (distal muscles).

Spinal Muscular Atrophy

Description: 

MDA leads the search for treatments and therapies for spinal muscular atrophy (SMA). The Association also provides comprehensive supports and expert clinical care for those living with SMA.

In this section, you’ll find up-to-date information about spinal muscular atrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

Research Briefs: Stem Cells

Stem cells are a hot topic these days in medicine, science and law, although the term has multiple meanings and it's easy to get confused.

In short, stem cells are cells at an early stage of development from which specialized cells, such as muscle or nerve cells, can develop (in other words, from which these specialized cells "stem").

Different kinds of stem cells are referred to as:

Researchers Exploring Disability Perceptions

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

Friends with SMA Inspire Scouts to Create Wheelchair Device

Ten-year-old Quinn Schnitzlein has been using a power chair since he was 3, so he’s a pretty good driver. But the boy from Marietta, Ga., who has spinal muscular atrophy (SMA), often bumped into things when he backed up.

One day last year, Quinn and some friends were at a fast-food restaurant. “We were at different tables,” Quinn says, “and when I’d try to turn around to talk to them, I kept hitting things.”

FDA Approves Phase 1 Clinical Trial of RG3039 in SMA

In a historic first, biotech company Repligen Corp., of Waltham, Mass., has received approval from the U.S. Food and Drug Administration (FDA) to begin a phase 1 clinical trial of the experimental drug RG3039 for spinal muscular atrophy (SMA).

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