ATP7A-related distal motor neuropathy

Common Name(s)

ATP7A-related distal motor neuropathy, Distal spinal muscular atrophy x-linked 3

ATP7A-related distal motor neuropathy is a very rare genetic disorder that causes muscle weakness and a decrease in muscle tissue (atrophy) that gets worse with time (progressive). Symptoms can include weakness of both the arms and legs, really high or flat arch of the foot, and hand weakness. The disorder is caused by a change (mutation) in the ATP7A gene. This gene provides instructions for the body to make a protein involved in moving copper into and out of motor neurons (cells that carry signals from the brain to the muscles). When the ATP7A gene has a mutation, the level of copper in the motor neurons is abnormal, which causes the muscle weakness and atrophy. Individuals with this disease do not usually experience symptoms until they are adults and, although the disorder gets worse with time, it usually progresses slowly.

Males are at a higher risk than females to develop ATP7A-related distal motor neuropathy because the ATP7A gene is located on the X chromosome (inherited in an X-linked recessive manner). Males have only one X chromosome (one copy of the ATP7A gene) while females have two copies of the X chromosome (two copies of the ATP7A gene). If a male has a mutation in his only copy of the ATP7A gene, he will have ATP7A-related distal motor neuropathy. If a female has a mutation in one of her two copies of the ATP7A gene, she has another working copy and will usually not have symptoms of the condition. A diagnosis of ATP7A-related distal motor neuropathy is considered in a person who has muscle weakness and atrophy. Genetic testing is used to confirm the diagnosis. If you or a family member has been diagnosed with this disease, talk with your doctor about the current treatment options. Support groups are a good resource for additional infor

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "ATP7A-related distal motor neuropathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "ATP7A-related distal motor neuropathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "ATP7A-related distal motor neuropathy" returned 1 free, full-text research articles on human participants. First 3 results:

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
 

Author(s): Ling Yi, Anthony Donsante, Marina L Kennerson, Julian F B Mercer, James Y Garbern, Stephen G Kaler

Journal: Hum. Mol. Genet.. 2012 Apr;21(8):1794-807.

 

ATP7A is a P-type ATPase that regulates cellular copper homeostasis by activity at the trans-Golgi network (TGN) and plasma membrane (PM), with the location normally governed by intracellular copper concentration. Defects in ATP7A lead to Menkes disease or its milder variant, occipital ...

Last Updated: 28 Mar 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "ATP7A-related distal motor neuropathy" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.