More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: DARS-related mutation
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is an extremely rare genetic disorder that affects the central nervous system. It is characterized by abnormal myelination in the brainstem and spinal cord, leading to progressive neurological symptoms, including leg spasticity, muscle weakness, ataxia, and cognitive impairment. HBSL is caused by mutations in the DARS gene. Treatment primarily focuses on managing symptoms and providing supportive care to improve the affected individual’s quality of life.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Mutations in the DARS gene cause this condition. This leads to reduced activity of cytoplasmic aspartyl-tRNA synthetase, but it is not fully understood why this causes the specific symptoms of HBSL.
HBSL presents with similar symptoms to Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, caused by mutations of the DARS2 gene, which relate to mitochondrial aspartyl- tRNA synthetase.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
As well as spasticity in the legs, those with this condition commonly suffer from nystagmus, hypotonia and motor development delay. Some may develop seizures, dysarthria and learning difficulties.
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
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