More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: HLD4; Mitochondrial Hsp60 Chaperonopathy (MitCHAP-60)
HSPD1-related hypomyelination is a rare genetic disorder caused by mutations in the HSPD1 gene. It affects the development of myelin, the protective covering of nerve fibres in the brain. This results in a lack of proper myelination and leads to severe neurological symptoms, including developmental delay, intellectual disability, muscle weakness, and movement difficulties. 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.
More common in consanguineous groups (marriage between two closely related people), this condition is caused by mutations in the HSPD1 gene. This gene encodes a mitochondrial protein called Hsp60.
Symptoms are very similar to severe Pelizaeus-Merzbacher Disease; the inclusion of HSPD1-related hypomyelination as a form of Pelizaeus-Merzbacher-like Disease is controversial due to the lack of neuronal involvement.
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.
Onset of symptoms is typically experienced in the first three months of life, characterised by nystagmus, intellectual disability, hypotonia and progressive spastic paraplegia. While head circumference is normal at birth, growth rate will typically slow within the first months of life. Those with this condition can experience seizures and often have feeding difficulties. Survival past 20 years of age is not expected.
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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