Spinal muscular atrophy, lower extremity, dominant

Common Name(s)

Spinal muscular atrophy, lower extremity, dominant, SMA-LED, DYNC1H1 associated spinal muscular atrophy

Spinal muscular atrophy, lower extremity, dominant (SMA-LED) is a genetic disorder that causes muscle weakness and loss of muscle tissue (atrophy) in the legs (lower extremities). SMA-LED mainly affects the muscles in the thighs (quadriceps). Symptoms usually present in childhood and slowly get worse with time (progress). Children with this condition have trouble walking well (unsteady gait) and may also be delayed in walking. They may also have difficulty with standing from a seated position.

SMA-LED is caused by a change (mutation) to the DYNC1H1 gene. This gene provides the instructions for the body to produce a protein called dynein, which helps nerve cells (neurons) that control muscle movement send chemical signals to each other. When the DYNC1H1 gene has a mutation, the dynein protein is not made and neurons cannot send signals to each other. This abnormal chemical messaging is what causes the muscle weakness in SMA-LED. As its name suggests, this disease is inherited in an autosomal dominant way. This means a mutation in only one of the two copies of the DYNC1H1 gene a person has is enough to cause the condition.

SMA-LED is usually considered in a child who has proximal muscle weakness. Genetic testing of the DYNC1H1 gene is used to confirm the diagnosis. Muscle weakness seen in SMA-LED is similar to the muscle weakness seen in other genetic conditions. A doctor may collect and examine a small muscle sample (biopsy) to look for clues for the diagnosis. There is no cure for SMA-LED, but physical therapy can be helpful in strengthening the affected muscles. If your child has been diagnosed with SMA-LED, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other affected families.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy, lower extremity, dominant" for support, advocacy or research.

Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

Last Updated: 19 May 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy, lower extremity, dominant" for support, advocacy or research.

Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

http://www.thisbeandnoah.org/

Last Updated: 19 May 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Spinal muscular atrophy, lower extremity, dominant" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Spinal muscular atrophy, lower extremity, dominant" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.