Distal hereditary motor neuropathy, type V

I have distal hereditary motor neuropathy, type V. What are the chances my children will have it?

An individual with distal hereditary motor neuropathy, type V (DHMN5) has a 50% chance of passing on the mutation that causes his or her condition to any child. There is also a 50% chance that they will not pass on the mutation and their child will then not have DHMN5. However, some people who have the gene mutation in BSCL2 or GARS that causes DHMN5 never develop the condition. This can make it difficult to see a pattern of the condition running in a family. Additionally, understanding the inheritance pattern can be complicated as some people with some of the same mutations in the BSCL2 or GARS gene can have a diagnosis of DMHN5, Charcot-Marie-Tooth disease type 2, or Silver syndrome.

Distal hereditary motor neuropathy, type V (DMHN5) is caused by changes (mutations) in either the BSCL2 or the GARS gene. The BSCL2 gene provides instructions for making a protein called seipin that works in many cells and tissues, including nerve cells that control muscle movement (motor neurons) and the brain. Mutations in the BSCL2 gene likely change the structure of the seipin protein. The misshapen protein may build up in nerve cells, causing damage that leads to muscle weakness. Interestingly, some of the same mutations in the BSCL2 gene can cause DMHN5, Charcot-Marie-Tooth disease type 2, or Silver syndrome in members of the same family. A different set of 24 mutations in BSCL2 that do not cause DMHN5 can cause a very different genetic condition called congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 2.

The GARS gene provides instructions for making an enzyme called glycyl-tRNA synthetase. This enzyme is found in all cell types and plays an important role in making proteins. Mutations in the GARS gene probably do not lead to a misshapen product, but may instead lower the amount of protein product made. This can result in reduced ability of the nerve signals to move. As a result, nerve cells slowly lose the ability to communicate with muscles in the hands and feet. Other mutations in GARS can cause another genetic condition called Charcot-Marie-Tooth disease type 2D.

Where can I read personal stories of other families affected by Distal Hereditary Motor Neuropathy, type V?

For support and information about hereditary neuropathies including type V, you can connect to the Hereditary Neuropathy Foundation at www.hnf-cure.org/online-support-community.
On Facebook, you can also request to join the closed group, "Hereditary Neuropathy & CMT" (https://www.facebook.com/groups/77586634334/).

When am I going to die from distal hereditary motor neuropathy, type V?

People with distal hereditary motor neuropathy, type V had a normal lifespan. While you may require different healthcare specialists to help manage the disease, you should expect to live a normal lifespan.

Treatment for distal hereditary motor neuropathy, type V might include care from neurologists (doctors who treats the brain, spinal cord and nerves), physiatrists (doctors who treat the brain, spinal cord, nerves, bones, joints, muscles, tendons and ligaments), orthopedic surgeons, medical geneticists, and physical and occupational therapists who can help manage symptoms of muscle weakness and wasting (atrophy).

Distal hereditary motor neuropathy, type V can be abbreviated as:

Distal hereditary motor neuropathy, type 5A (usually called just distal hereditary motor neuropathy type V or DHMN5) is a progressive genetic condition that affects the nerves in the spinal cord. Individuals with this condition experience muscle weakness in their hands and feet. Symptoms usually begin in adulthood with most having their first symptoms between the teen years and 40s; however, symptoms can begin anytime from infancy to older adulthood. A common first symptom of DHMN5 is hand cramping in cold temperatures. This is typically followed by difficulty controlling the hands, and muscle weakness and deterioration (atrophy), primarily on the thumb side of the index finger and on the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus) are also common in people with DHMN5. As the disease slowly progresses, about half of people with DHMN5 will also have weakness in their feet with some people eventually having problems walking. Sometimes, people with DHMN5 will have difficulty feeling vibrations in their feet. People with this disorder have a normal life expectancy.

Distal hereditary motor neuropathy, type V (DHMN5) is a progressive genetic condition that affects the nerves in the spinal cord. Individuals with this condition experience muscle weakness in their hands and feet. Symptoms usually begin in adulthood with most having their first symptoms between the teen years and 40s; however, symptoms can begin anytime from infancy to older adulthood. A common first symptom of DHMN5 is hand cramping in cold temperatures. This is typically followed by difficulty controlling the hands, and muscle weakness and deterioration (atrophy), primarily on the thumb side of the index finger and on the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus) are also common in people with DHMN5. As the disease slowly progresses, about half of people with DHMN5 will also have weakness in their feet with some people eventually having problems walking. Sometimes, people with DHMN5 will have difficulty feeling vibrations in their feet. People with this disorder have a normal life expectancy.

Distal hereditary motor neuropathy, type V (DHMN5) is caused by abnormal changes (mutations) in either the BSCL2 or the GARS gene.

People with distal hereditary motor neuropathy, type V (DHMN5) experience muscle weakness and have difficulty with movement in their hands and feet. Symptoms usually begin in adulthood with most having their first symptoms between the teen years and 40s; however, symptoms can begin anytime from infancy to older adulthood. A common first symptom of DHMN5 is hand cramping in cold temperatures. This is typically followed by difficulty controlling the hands, and muscle weakness and deterioration (atrophy), primarily on the thumb side of the index finger and on the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus) are also common in people with DHMN5. As the disease slowly progresses, about half of people with DHMN5 will also have weakness in their feet with some people eventually having problems walking. Sometimes, people with DHMN5 will have difficulty feeling vibrations in their feet.

An individual with distal hereditary motor neuropathy, type V (DHMN5) has a 50% chance of passing on the mutation that causes his or her condition to any child. There is also a 50% chance that they will not pass on the mutation and their child will then not have DHMN5. However, some people who have the gene mutation in BSCL2 or GARS that causes DHMN5 never develop the condition. This can make it difficult to see a pattern of the condition running in a family. Additionally, understanding the inheritance pattern can be complicated as some people with some of the same mutations in the BSCL2 or GARS gene can have a diagnosis of DMHN5, Charcot-Marie-Tooth disease type 2, or Silver syndrome.

Distal hereditary motor neuropathy, type V (DMHN5) is caused by changes (mutations) in either the BSCL2 or the GARS gene. Some people have a specific gene mutation in BSCL2 or GARS that is known to cause DMHN5, but they never actually develop the condition. This is known as reduced penetrance. Also, people with the same mutation in the BSCL2 gene can have a diagnosis of DMHN5, Charcot-Marie-Tooth disease type 2, or Silver syndrome. This is known as variable expression.

As of January 2016, distal hereditary motor neuropathy, type V is not on the Recommended Uniform Screen Panel (RUSP) for newborn screening. The RUSP is created by the Health Resources and Services Administration, and all states use this list to guide what conditions are included in newborn screening.

When distal hereditary motor neuropathy, type V (DHMN5) is suspected in an individual, a neurologist (doctor who treats the brain, spinal cord, and nerves) completes a neurological exam and nerve testing called electrophysiologic studies. Genetic testing may also be performed and can include: complete molecular sequencing of the BSCL2 or the GARS genes, distal hereditary motor neuropathy NextGen Sequencing (NGS) Panel for multiple types of inherited distal motor neuropathies, or testing for a single known gene mutation running in the family. A genetic counselor or medical geneticist can assist you as you decide what type of genetic testing is right for you and your family. You can locate a genetic counselor at http://nsgc.org/p/cm/ld/fid=164.

As of January 2016, there is no clinical research specific to distal hereditary motor neuropathy type V, but there is research for hereditary motor neuropathies and inherited neurological disorders, in general. To find clinical trials for hereditary neuropathies, go to www.clinicaltrials.gov.

There is no cure for distal hereditary motor neuropathy, type V (DHMN5). Treatment focuses on managing symptoms of muscle weakness and wasting (atrophy). Physical therapy/physiotherapy may promote mobility and function in hands, arms, feet, and legs. Prosthetic and adaptive devices may be used to help weak hands. People who have symptoms in their feet and legs may use ankle support, special shoes and calipers (type of brace) to help with walking. Foot malformation may be corrected surgery. Stretching exercises, finger splints, and ankle braces may be used to prevent contractures and deformities before they occur.

Can I be cured from distal hereditary motor neuropathy, type V?

There is no cure for distal hereditary motor neuropathy, type V (DHMN5). Treatment focuses on managing symptoms of muscle weakness and wasting (atrophy). Physical therapy/physiotherapy may promote mobility and function in hands, arms, feet, and legs. Prosthetic and adaptive devices may be used to help weak hands. People who have symptoms in their feet and legs may use ankle support, special shoes and calipers (type of brace) to help with walking. Foot malformation may be corrected surgery. Stretching exercises, finger splints, and ankle braces may be used to prevent contractures and deformities before they occur.

Distal hereditary motor neuropathy, type V (DHMN5) in inherited within families in an autosomal dominant pattern. This means that only one copy of the gene responsible for DHMN5 in a person needs to be changed or mutated. We have two copies of every gene — one inherited from each parent. DHMN5 happens when someone has one change (mutation) in either the BSCL2 or the GARS gene. If someone has DHMN5, there is a 50% chance of passing on the mutation to each child. There is also a 50% chance that they will not pass on the mutation. However, some people who have the gene mutation in BSCL2 or GARS never actually develop the condition. This can make it difficult to see a pattern running in a family. Additionally, understanding the inheritance pattern can be complicated as some people with some of the same mutations in the BSCL2 or GARS gene can have a diagnosis of DMHN5, Charcot-Marie-Tooth disease type 2, or Silver syndrome.

Distal hereditary motor neuropathy, type V (DHMN5) in inherited within families in an autosomal dominant pattern. This means that only one copy of the gene responsible for DHMN5 in a person needs to be changed or mutated. We have two copies of every gene — one inherited from each parent. DHMN5 happens when someone has one change (mutation) in either the BSCL2 or the GARS gene. If someone has DHMN5, there is a 50% chance of passing on the mutation to each child. There is also a 50% chance that they will not pass on the mutation. However, some people who have the gene mutation in BSCL2 or GARS never actually develop the condition. This can make it difficult to see a pattern running in a family. Additionally, understanding the inheritance pattern can be complicated as some people with some of the same mutations in the BSCL2 or GARS gene can have a diagnosis of DMHN5, Charcot-Marie-Tooth disease type 2, or Silver syndrome.

I have just been diagnosed with distal hereditary motor neuropathy, type V. What can I expect?

A common first symptom of distal hereditary motor neuropathy, type V (DHMN5) is hand cramping in cold temperatures. This is typically followed by difficulty controlling the hands, and muscle weakness and deterioration (atrophy), primarily on the thumb side of the index finger and on the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus) are also common. As the disease slowly progresses, you may experience about weakness in your feet and eventually having problems walking. Sometimes, people with DHMN5 will have difficulty feeling vibrations in their feet. Having this disease will not shorten your life expectancy.

To give money to support research for distal hereditary motor neuropathy, type V, you can donate to the Hereditary Neuropathy Foundation. Go to www.hnf-cure.org and click on the "Donate" button on the center-left part of the homepage. There is also a "donate" button on the upper right part of the homepage.

You can also donate to the Hereditary Neuropathy Foundation through a third-party site, like causes.com (www.causes.com/actions/1608095-donate-to-hereditary-neuropathy-foundation-inc) or igive.com (http://www.igive.com/html/allcauses.cfm?causeid=19073).

The initial testing for distal hereditary motor neuropathy, type V (DHMN5) is usually done by a neurologist via neurological exam and nerve testing called electrophysiologic studies. Then the neurologist may refer to a medical geneticist or genetic counselor for molecular genetic testing to confirm the diagnosis. There are several genetic testing laboratories that offer diagnostic testing for DHMN5. There are multiple types of tests, including complete molecular sequencing of the BSCL2 or the GARS genes or targeted testing to identify a specific mutation that is known to be present in the family. A genetic counselor or medical geneticist can provide assistance as to what type of genetic testing is right for both you and your family. You can locate a genetic counselor at http://nsgc.org/p/cm/ld/fid=164.

To find clinical trials for hereditary neuropathies, go to www.clinicaltrials.gov. On the homepage, enter "hereditary motor neuropathy" in the "Search for Studies" box. You will then find a list of studies. Look for studies with the green word "recruiting". The Hereditary Neuropathy Foundation (http://www.hnf-cure.org/) may also be aware of other available research studies looking for subjects.

The incidence of distal hereditary motor neuropathy, type V is unknown. Only a small number of cases have been reported. In January 2016, approximately 30 families worldwide with 2 specific BSCL2 mutations (p.Asn88Ser and p.Ser90Leu) have been identified and described by doctors.

Distal hereditary motor neuropathy, type V is also known as:

There are several genetic conditions that share similar features of distal hereditary motor neuropathy, type V (DSMN5). They include: other hereditary motor neuropathies, Silver syndrome, amyotrophic lateral sclerosis (ALS), spastic paraplegia (Strumpell-Lorrain disease) and Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease type 2D (CMT2D) and Silver syndrome are most similar to DHMN5. CMT2D is caused by mutations in the BSCL2 or GARS gene just like DHMN5, but it includes health problems that affect peripheral nerves involved in movement and sensations like touch, pain, heat, and sound. Silver syndrome is characterized by muscle weakness and wasting in the hands and abnormal muscle stiffness (spasticity) in the legs. Silver syndrome is also caused by mutations in the BSCL2 gene.

For support and information about hereditary neuropathies including type V, you can connect to the Hereditary Neuropathy Foundation at www.hnf-cure.org/online-support-community.
On Facebook, you can also request to join the closed group, "Hereditary Neuropathy & CMT" (https://www.facebook.com/groups/77586634334/).

Distal hereditary motor neuropathy, type V (DHMN5) is unusual in that muscle weakness and wasting (atrophy) is experienced primarily in the hands. Most neuropathies affect hands, feet, legs, and arms.