Surreal illustration of a hand with glowing GAG network, representing the link between MPS I and carpal tunnel syndrome.

Unlocking the Mystery of Carpal Tunnel Syndrome in MPS I: What You Need to Know

Jordan Keane in Health & Wellness December 2025 • 4 min read.

"A comprehensive look at the connection between Mucopolysaccharidosis I and carpal tunnel syndrome, including symptoms, diagnosis, and treatment options."

Carpal tunnel syndrome (CTS) is a condition that causes pain, numbness, and tingling in the hand and arm. It occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes compressed at the wrist. While CTS is common in the general population, it's particularly prevalent in individuals with mucopolysaccharidosis I (MPS I), a rare genetic disorder.

MPS I is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs, including the cartilage, tendons, and ligaments around the wrist. The buildup of GAGs can compress the median nerve, resulting in carpal tunnel syndrome.

This article delves into the intricate relationship between MPS I and CTS, offering insights into the symptoms, diagnostic challenges, and management strategies. Whether you're a patient, caregiver, or healthcare professional, understanding this connection is crucial for early diagnosis and effective treatment, ultimately improving the quality of life for those affected by MPS I.

Why is Carpal Tunnel Syndrome More Common in People with MPS I?

Surreal illustration of a hand with glowing GAG network, representing the link between MPS I and carpal tunnel syndrome.

The underlying cause of CTS in MPS I patients is the accumulation of glycosaminoglycans (GAGs) due to the deficiency of the alpha-L-iduronidase enzyme. These GAGs deposit in various tissues, leading to thickening and stiffness, which can compress the median nerve at the wrist. This compression results in the classic symptoms of CTS, such as pain, tingling, and numbness in the hand and fingers.

Specifically, excessive tissue GAG leads to thickening of the flexor retinaculum as well as the tenosynovium, resulting in impaired tendon excursion and the typical 'claw' deformity with flexed distal interphalangeal joints. If untreated, severe median nerve compression can result in irreversible damage.

GAG Accumulation: The primary culprit is the buildup of GAGs in the tissues around the wrist.
Flexor Retinaculum Thickening: The flexor retinaculum, a band of tissue that covers the carpal tunnel, thickens due to GAG deposition.
Tenosynovitis: The tenosynovium, the lining of the tendons in the wrist, also thickens, further narrowing the carpal tunnel.

This combination of factors creates a perfect storm for median nerve compression, making individuals with MPS I more susceptible to developing CTS. Understanding these mechanisms is key to early diagnosis and appropriate management.

The Importance of Early Detection and Intervention

Given the challenges in diagnosing CTS in patients with MPS I, healthcare providers should be vigilant for early signs and symptoms. Routine screening and monitoring are essential, particularly in young children with MPS I. Early diagnosis and treatment can prevent irreversible nerve damage and improve the overall quality of life for those affected by this complex condition.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1111/dmcn.13545, Alternate LINK

Title: Carpal Tunnel Syndrome In Mucopolysaccharidosis I: A Registry-Based Cohort Study

Subject: Neurology (clinical)

Journal: Developmental Medicine & Child Neurology

Publisher: Wiley

Authors: David Viskochil, Joseph Muenzer, Nathalie Guffon, Christophe Garin, M Veronica Munoz-Rojas, Kristin A Moy, Douglas T Hutchinson

Published: 2017-09-11

Everything You Need To Know

What is the primary cause of carpal tunnel syndrome (CTS) in individuals with Mucopolysaccharidosis I (MPS I)?

The primary cause of carpal tunnel syndrome (CTS) in individuals with Mucopolysaccharidosis I (MPS I) is the accumulation of glycosaminoglycans (GAGs) due to a deficiency in the alpha-L-iduronidase enzyme. This deficiency leads to GAGs depositing in tissues around the wrist, causing thickening and stiffness. This process compresses the median nerve, resulting in the symptoms of CTS.

How does the buildup of glycosaminoglycans (GAGs) specifically lead to carpal tunnel syndrome in MPS I?

In MPS I, the accumulation of glycosaminoglycans (GAGs) causes the flexor retinaculum and tenosynovium to thicken. The flexor retinaculum is a band of tissue covering the carpal tunnel, and when it thickens, it narrows the space. The tenosynovium, which lines the tendons in the wrist, also thickens due to GAG buildup. The excessive tissue GAG leads to impaired tendon excursion and can result in the typical 'claw' deformity with flexed distal interphalangeal joints. This combination compresses the median nerve, leading to carpal tunnel syndrome.

Why is early detection and intervention so important for carpal tunnel syndrome in patients with MPS I?

Early detection and intervention are vital in patients with MPS I because the challenges in diagnosing CTS can lead to delayed treatment. Routine screening and monitoring, especially in young children with MPS I, can prevent irreversible damage to the median nerve. Early diagnosis and appropriate management, such as addressing the GAG accumulation, improve the overall quality of life for those affected, preventing long-term complications and disability.

Besides GAG accumulation, what other factors contribute to median nerve compression in individuals with MPS I and carpal tunnel syndrome?

GAG accumulation is the primary factor. The flexor retinaculum, which is a band of tissue that covers the carpal tunnel, thickens due to GAG deposition. The tenosynovium, which is the lining of the tendons in the wrist, also thickens because of GAG accumulation. These factors collectively narrow the carpal tunnel and increase pressure on the median nerve, resulting in carpal tunnel syndrome symptoms. Without treatment, it can lead to a 'claw' deformity. If untreated, severe median nerve compression can result in irreversible damage.

If someone has been diagnosed with MPS I, what steps should be taken to monitor and prevent the development of carpal tunnel syndrome?

Individuals diagnosed with MPS I should undergo routine screening and monitoring by healthcare providers to detect early signs and symptoms of carpal tunnel syndrome (CTS). Vigilance is essential, particularly in young children with MPS I. Early diagnosis and treatment, such as enzyme replacement therapy or hematopoietic stem cell transplantation to address the underlying GAG accumulation, can prevent irreversible nerve damage. Regular physical examinations and nerve conduction studies can help assess the median nerve function and identify any early signs of compression.