Sorbitol dehydrogenase deficiency (commonly referred to as SORD deficiency) is a rare genetic condition that can affect your nerves and muscles. This guide explains the condition, its causes, symptoms, treatments, and how to manage living with it.
What is Sorbitol Dehydrogenase Deficiency?
SORD deficiency is a genetic disorder caused by mutations in the SORD gene, which provides instructions for making a protein called sorbitol dehydrogenase. This protein plays a role in breaking down sorbitol, a type of sugar alcohol that is naturally produced in your body. When this process doesn’t work properly, sorbitol builds up in your cells, particularly in nerves and muscles, leading to damage over time.
SORD deficiency is associated with symptoms such as muscle weakness and nerve problems (neuropathy), which can affect your ability to move or feel sensations in certain parts of your body.
Key Facts About Sorbitol Dehydrogenase Deficiency
Background
- SORD deficiency was only recently identified as a distinct condition and is still being studied by researchers.
- It is classified as a rare inherited metabolic disorder, meaning it affects how your body processes certain substances due to genetic changes.
Causes
- The condition is caused by mutations in the SORD gene, which disrupt the production or function of sorbitol dehydrogenase.
- These mutations are inherited in an autosomal recessive pattern, meaning both parents must pass on a faulty copy of the gene for their child to develop the condition.
Incidence and Prevalence
- Incidence: Refers to new cases diagnosed each year. Since SORD deficiency is newly recognised, exact incidence rates are not yet known.
- Prevalence: Estimates suggest it may affect approximately 1 in 100,000 people worldwide, but this number may be higher as more cases are identified through genetic testing.
Who is Affected?
- Age of Onset: Symptoms typically begin during childhood or adolescence but can vary depending on the severity of the condition.
- Gender: Both males and females are equally affected.
- Ethnicity: SORD deficiency has been reported across various ethnic groups without any known predilection for specific populations.
Geographic Distribution
- Cases have been reported globally, with no specific regions showing higher prevalence at this time.
How Does Sorbitol Dehydrogenase Deficiency Impact You?
Symptoms
The symptoms of SORD deficiency can vary widely but often include:
- Peripheral Neuropathy: Damage to the nerves outside the brain and spinal cord can cause:
- Tingling or numbness in the hands and feet.
- Muscle weakness, particularly in the lower limbs.
- Difficulty walking or maintaining balance.
- Muscle Involvement: Over time, some individuals may experience muscle wasting (atrophy) or reduced strength in affected areas.
The severity of symptoms can range from mild discomfort to significant disability, depending on how much sorbitol has accumulated in your tissues.
Living With Sorbitol Dehydrogenase Deficiency
Living with SORD deficiency often involves managing nerve and muscle symptoms through physical therapy, medications, and lifestyle adjustments to maintain mobility and quality of life.
Expected Life Expectancy
With proper management, individuals with SORD deficiency can live into adulthood. However, severe cases may lead to complications that impact overall health and mobility.
Managing and Treating Sorbitol Dehydrogenase Deficiency
Available Treatments
Currently, there is no cure for SORD deficiency, but treatments focus on managing symptoms and preventing complications:
- Medications:
- Research into targeted therapies is ongoing; early studies suggest that reducing sorbitol levels could help alleviate symptoms.
- Pain relief medications may be prescribed for neuropathy-related discomfort.
- Physical Therapy:
- Exercises designed to improve strength, flexibility, and balance can help maintain mobility and reduce the risk of falls.
- Assistive Devices:
- Braces or mobility aids (e.g., walking sticks) may be recommended for individuals with significant muscle weakness or difficulty walking.
- Dietary Adjustments:
- While dietary sorbitol intake (found in sugar-free products like gum) does not significantly contribute to the problem, avoiding excessive consumption may be advised as a precaution.
- Regular Monitoring:
- Ongoing check-ups with a neurologist or specialist are essential to monitor disease progression and adjust treatments as needed.
Ongoing Clinical Research
Research into SORD deficiency is advancing rapidly due to its recent discovery:
- Gene Therapy: Scientists are exploring ways to correct mutations in the SORD gene using advanced genetic techniques.
- Enzyme Replacement Therapy (ERT): Early studies are investigating whether introducing functional sorbitol dehydrogenase into the body could help reduce sorbitol buildup.
- Small Molecule Inhibitors: Researchers are developing drugs that may block sorbitol production or enhance its breakdown by alternative pathways.
- Clinical trials for these therapies are ongoing; you can find more information about participation opportunities at clinicaltrials.gov.
Support Groups and Resources
If you have been diagnosed with SORD deficiency, connecting with support groups can provide valuable information and emotional support:
- Genetic Alliance UK (org.uk)– Offers resources for individuals living with rare genetic conditions like SORD deficiency.
- Rare Disease UK (org.uk)– Provides advocacy and support for people living with rare diseases.
- Global Genes (org)– Connects patients with rare diseases to advocacy groups worldwide.
Neuropathy Action Foundation (neuropathyaction.org) – Offers resources for managing peripheral neuropathy symptoms.
