Dominic Stone
Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and other organs and tissues. While EDS is typically associated with joint hypermobility, some people with EDS do experience muscle stiffness, especially as they age. This stiffness is often the body's attempt to stabilize hypermobile joints. Due to joint instability, the brain may instruct the muscles surrounding the joints to remain partially contracted to provide additional support. Over time, this constant muscle engagement can lead to a feeling of tightness or stiffness, even though the joints themselves are overly flexible.
| Characteristics | Values |
|---|---|
| Definition | Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. |
| Cause | Faults in certain genes that make connective tissue weaker. |
| Diagnosis | Based on a person's medical history and a physical examination. |
| Symptoms | An unusually large range of joint movement (hypermobility), weak muscle tone (hypotonia), fragile skin, easy bruising, abnormal scarring, curvature of the spine, skeletal abnormalities, etc. |
| Joint Hypermobility | A common symptom, affecting around 1 in 30 people. |
| Muscle Stiffness | Some people with EDS experience muscle stiffness, especially as they age. This stiffness is the body's attempt to stabilize hypermobile joints. |
| Treatment | There is no specific treatment for EDS, but many of the symptoms can be managed with support and advice. |
| Stiff Person Syndrome (SPS) | A rare neurological disorder causing severe and painful muscle spasms leading to "locked" muscles. SPS and EDS are two distinct disorders, but there are very rare cases in which a person may have both. |
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What You'll Learn
EDS and muscle stiffness with age
Ehlers-Danlos Syndrome (EDS) is a genetic disorder that affects connective tissue structure and function. It impacts the musculoskeletal system, causing joint hypermobility and instability. While joint hypermobility is common in people with EDS, some individuals with the syndrome may experience muscle stiffness due to muscle overcompensation to stabilize loose joints.
The brain attempts to stabilize joints by instructing the surrounding muscles to increase their tone, resulting in hypertonicity. Hypertonic muscles remain in a constant state of contraction, impacting their ability to relax and recover. This can lead to muscle fatigue and physical exhaustion, even with typical daily tasks.
The relationship between EDS and muscle stiffness becomes more complex as individuals with the syndrome age. While hypermobility tends to decrease over time, it does not necessarily lead to improved joint stability or a reduction in pain. The body's attempt to compensate for weakened connective tissue can result in chronic stiffness, compensatory muscle tension, and increased joint degeneration. This shift towards a different form of instability can cause pain, even as the range of motion reduces.
The progression of EDS symptoms with age varies among individuals. Some people may experience a worsening of symptoms, especially if they have gone without a proper diagnosis or effective treatment. In contrast, others may feel better as they get older, particularly if they have proactively focused on building muscle strength and managing their symptoms.
It is important to note that not all types of EDS age the same way. The progression of the syndrome depends on the specific genetic mutation, the degree of joint instability, and the involvement of other body systems. For example, vascular EDS (vEDS) is often the most concerning in terms of age-related progression due to its potential severity and life-threatening complications.
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EDS and muscle tightness
Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. There are 13 types of EDS, most of which are rare. The different types of EDS are caused by faults in certain genes that make connective tissue weaker.
While EDS is typically associated with joint hypermobility, some people with EDS do experience muscle stiffness, especially as they age. This stiffness is often the body's attempt to stabilize hypermobile joints. Due to joint instability, the brain may instruct surrounding muscles to remain partially contracted to provide additional support. Over time, this constant muscle engagement can lead to a feeling of tightness or stiffness, even though the joints themselves are overly flexible. As people with EDS get older, they might transition through different phases, including a “stiffness phase,” where chronic pain and reduced mobility can become prominent.
It is important to note that Stiff Person Syndrome (SPS) is a distinct but rare disorder that profoundly affects the lives of those diagnosed. SPS is believed to be an autoimmune disorder, as many patients show antibodies that interfere with GABA production, a neurotransmitter that typically inhibits excessive nerve activity. This interference leads to overactive muscle responses, causing continuous contractions and co-contractions of opposing muscles. While EDS and SPS are different conditions, there are very rare cases in which a person may have both.
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EDS and hypertonicity
Hypertonicity is a common experience for people with Ehlers-Danlos Syndrome (EDS). EDS causes increased laxity of the ligaments, resulting in "loose" joints. In response to this instability, the brain instructs the muscles surrounding the joints to increase their tone to improve stability. This can lead to hypertonicity, where the muscles remain in a constant state of contraction, unable to fully relax.
People with EDS often ask the question, "If my joints are so loose, why do I feel so tight?". This feeling of tightness in the muscles can result in pain and discomfort. Hypertonic muscles are constantly working to maintain stability, which can lead to fatigue and physical exhaustion when performing daily tasks. The constant contraction of the muscles can also limit their ability to generate strength when needed.
The increased muscle tone around the joints is often not balanced, resulting in an increased risk of subluxation and injury. This imbalance can lead to poor joint loading and focused compression, further contributing to joint instability.
Strength training and physical therapy can help manage hypertonicity in people with EDS. It is important to work with professionals familiar with EDS and chronic pain to ensure that the treatment does not worsen joint instability. Techniques such as Dynamic Neuromuscular Stabilization (DNS) aim to improve functional joint centration, allowing for full freedom of movement without resulting in fatigue, tightness, and pain.
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EDS and muscle spasms
Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. It is caused by faults in certain genes that make connective tissue weaker. The different types of EDS include classical EDS, vascular EDS, and kyphoscoliotic EDS, with hypermobile EDS (hEDS) being the most common type.
While EDS is typically associated with joint hypermobility, some people with EDS do experience muscle stiffness, especially as they age. This stiffness is often the body's attempt to stabilize hypermobile joints. Due to joint instability, the brain may instruct the muscles surrounding the loose joints to increase their tone and remain partially contracted to provide additional support. This increased muscle tone can help improve joint stability, but it can also result in the muscles staying in a hypertonic state. Hypertonic muscles do not fully relax but instead stay "on" all the time, which can lead to a feeling of tightness or stiffness even though the joints themselves are overly flexible.
As people with EDS get older, they might transition through different phases, including a "stiffness phase," where chronic pain and reduced mobility can become prominent. This increased muscle tone is often not balanced around the joint, which can result in an increased risk of subluxation or injury due to focused compression and poor joint loading. The constant work done by the muscles to maintain this hypertonicity results in fatigue, which can explain why many patients with EDS report physical exhaustion with typical daily tasks.
It is important to note that Stiff Person Syndrome (SPS) is a separate condition from EDS, although there are very rare cases where a person may have both. SPS is a rare neurological disorder that causes severe and painful muscle spasms, leading to "locked" muscles. SPS typically begins with symptoms in the trunk and lower limbs but can spread to other areas, causing significant physical limitations. While EDS and SPS are distinct conditions, they can both profoundly affect the lives of those diagnosed.
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EDS and muscle weakness
Ehlers-Danlos Syndrome (EDS) is a genetic disease that affects connective tissue, causing joint hypermobility. There are 13 types of EDS, most of which are rare. The hypermobility caused by EDS can result in muscle stiffness and pain. This is because the brain instructs the muscles surrounding loose joints to increase their tone to improve joint stability. However, this can result in the muscles remaining in a hypertonic state, causing them to stay "on" all the time. Hypertonic muscles cannot fully relax, which can lead to muscle pain and weakness.
Myopathic EDS (mEDS) is one of the types of EDS that can cause muscle weakness. mEDS is caused by mutations in the COL12A1 gene, which encodes for type 12 collagen. Type 12 collagen is necessary for the structural integrity and function of skeletal muscles. The mutation affects the interaction between type 12 collagen and other structural proteins, resulting in weak muscles with defective structures. Symptoms of mEDS can include muscle weakness, cramps, stiffness, and spasms. Patients with mEDS may require physiotherapy for contractures and muscle weakness and may need to be monitored for respiratory issues.
Another type of EDS that can cause muscle weakness is kyphoscoliotic EDS (kEDS), which is associated with weak muscle tone from childhood (hypotonia). This can cause delays in sitting and walking or difficulty walking if symptoms worsen.
While there is no specific treatment for EDS, symptoms can be managed through physical therapy and rehabilitation techniques. Techniques such as Dynamic Neuromuscular Stabilization (DNS) can help patients attain functional joint centration, allowing them to use their muscles to stabilize their joints efficiently while maintaining full freedom of movement.
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Frequently asked questions
Ehlers-Danlos Syndrome (EDS) is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. It is caused by faults in certain genes that make connective tissue weaker.
The symptoms of EDS vary depending on the type but can include unusually large range joint movement (hypermobility), weak muscle tone (hypotonia), fragile skin, easy bruising, and abnormal scarring. Some people with EDS experience muscle stiffness, especially as they age.
Diagnosing EDS can be challenging due to its rarity and complexity. A diagnosis is typically made based on a person's medical history, family history, and physical examination. Genetic blood tests may also be carried out to confirm the diagnosis.
While EDS is typically associated with joint hypermobility, some people with EDS do experience muscle stiffness. This stiffness is the body's attempt to stabilize hypermobile joints. The brain instructs the muscles surrounding the loose joints to increase their tone, which can result in the muscles staying in a constant state of contraction and leading to a feeling of tightness or stiffness.
