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Ehlers-Danlos Syndrome (EDS) is a group of 14 genetic connective tissue disorders with 13 identified types. It is caused by faults in certain genes that make connective tissue weaker, and symptoms include loose joints, joint pain, stretchy skin, and abnormal scar formation. EDS, particularly hEDS, is linked with muscular spasms, discomfort, nocturnal muscle cramps, and increasing muscle weakness. These symptoms are caused by the brain's attempt to stabilize the joints, which results in hypertonicity, or muscles that stay in a constant state of contraction. This can lead to dystonia, a movement disorder characterized by involuntary muscle contractions, which can manifest as tremors, abnormal postures, and painful spasms.
| Characteristics | Values |
|---|---|
| Types of EDS | Hypermobile EDS (hEDS), Classical EDS (cEDS), Vascular EDS (vEDS), Kyphoscoliotic EDS (kEDS) |
| Symptoms | Muscle spasms, nocturnal muscle cramps, floppy (low-tone) muscles, muscle weakness, joint dislocations, joint pain, fatigue, mood problems, digestive issues, skin symptoms, fragile blood vessels, slow wound healing, etc. |
| Treatment | Pain medication, physiotherapy, cognitive behavioral therapy, group therapy, home exercises, coaching from a physiotherapist, swimming, pilates, yoga, gentle workouts, rest, etc. |
| Causes | Faults in genes that make connective tissue weaker, increased laxity of ligaments, hypermobility, joint instability, movement disorders, etc. |
| Diagnosis | Based on medical history, physical examination, genetic blood test, family history, etc. |
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What You'll Learn
EDS and muscle pain
Ehlers-Danlos Syndrome (EDS) is a genetic disorder caused by faults in certain genes that make connective tissue weaker. There are 13 types of EDS, most of which are rare. The most common type is Hypermobile EDS (hEDS), occurring in 1 in 5,000 to 20,000 people worldwide.
EDS is associated with muscle pain, discomfort, nocturnal muscle cramps, and increasing muscle weakness. These symptoms can be caused by the “looseness” of joints, which leads to the brain instructing the muscles surrounding the joints to increase their tone. This increased muscle tone can help improve joint stability but can also result in the muscles staying in a hypertonic state, causing them not to fully relax. This can lead to a feeling of tightness in the muscles, resulting in pain and discomfort.
In addition, the overlap of joint instability and muscle weakness in EDS can lead to muscle overcompensation, where muscles tighten excessively to stabilize loose joints. This can progress into dystonia, a movement disorder characterized by involuntary muscle contractions. Dystonia can manifest as repetitive twisting, tremors, or abnormal postures. Focal dystonia, which affects a specific part of the body such as the neck or jaw, is common in EDS patients and can lead to further joint instability and dislocations.
Physiotherapy can assist in decreasing muscle spasms, strengthening the muscles around the joints, and preventing dislocations. A physiotherapist may design an exercise regimen to help the patient gain strength, mobility, and range of motion, while also strengthening joints prone to dislocation.
To manage muscle pain and prevent injury, individuals with EDS should avoid high-impact activities, contact sports, and heavy lifting. Swimming, Pilates, yoga, and other gentle workouts are recommended.
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Nocturnal muscle cramps
Nocturnal leg cramps typically affect the posterior calf muscles, but they can also occur in the foot and thigh. While the precise mechanism of these cramps is not fully understood, several factors have been identified as potential causes. One hypothesis suggests that the modern "civilized" lifestyle no longer includes repetitive squatting, which stretches the leg tendons and muscles. As a result, when the foot is passively in plantar flexion during sleep, and the calf muscle fibres are already shortened, uninhibited nerve stimulation may lead to cramping.
Another factor contributing to nocturnal leg cramps is muscle fatigue. This is supported by research indicating that endurance athletes who engage in high-intensity exercise are more prone to experiencing leg cramps. Additionally, certain medications have been strongly associated with leg cramps, including intravenous iron sucrose, conjugated estrogens, raloxifene, naproxen, and teriparatide. It is important to consult with a healthcare provider to weigh the benefits and side effects of medications and explore alternative options if necessary.
Furthermore, nocturnal leg cramps may be related to underlying medical conditions such as vascular disease, lumbar canal stenosis, cirrhosis, hemodialysis, and pregnancy. Sitting for extended periods, overuse of muscles, standing or working on concrete floors, and poor posture can also contribute to the occurrence of nocturnal leg cramps. While the relationship between nocturnal leg cramps and EDS is not yet fully understood, EDS patients are advised to consult their treatment team and consider physiotherapy to improve muscle strength and reduce the occurrence of muscle spasms.
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Muscle weakness
Ehlers-Danlos Syndromes (EDS) are a group of rare inherited conditions that affect connective tissue. Depending on the type of EDS, the faulty gene may have been inherited from one or both parents. Sometimes, the faulty gene is not inherited but occurs in the person for the first time. Some of the rare, severe types can be life-threatening. There are 13 types of EDS, most of which are rare. Hypermobile EDS (hEDS) is the most common type, followed by classical EDS (cEDS), vascular EDS (vEDS), and kyphoscoliotic EDS (kEDS).
EDS, particularly hEDS, is linked with muscle weakness. Patients with EDS may experience joint dislocations because their joints are hypermobile, making exercise difficult. Muscle weakness can also be caused by avoiding exercise due to overly mobile joints. In addition, patients with EDS may have weak muscle tone from childhood (hypotonia), which may cause a delay in sitting and walking or difficulty walking if symptoms worsen.
Physiotherapy can assist in decreasing muscle spasms, strengthening the muscles around the joints, and preventing dislocations. A physiotherapist may design an exercise regimen to help the patient gain strength, mobility, and range of motion while strengthening joints prone to dislocation. Certain patients may also need to use orthotic braces or other adaptive devices to provide support during activity and avoid accidents or injuries.
There is no established treatment for movement disorders in patients with EDS. However, most EDS patients take pain medication, and many also receive physiotherapy, which has been shown to be beneficial.
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Dystonia and muscle spasms
Dystonia is a brain condition that causes uncontrollable muscle movements. It is a nervous system disorder that causes involuntary muscle contractions, where a person's muscles tense up without them trying to make them do so. Dystonia can be caused by faulty signals originating from the brain. These faulty signals can be caused by genetic mutations or conditions that disrupt the way the brain works, leading to cells working incorrectly and sending faulty signals to the muscles.
Dystonia can also be caused by injuries or conditions that affect brain function. The condition can range from a short-term issue to a lifelong concern, and its effects can worsen when a person is tired or stressed, or if they consume caffeine or alcohol. Dystonia can affect a person's whole body or just one part, and its symptoms may be continuous or come and go.
There is no established treatment for movement disorders in patients with EDS, and there is no specific treatment for EDS itself. However, most EDS patients use pain medication, and many also undergo physiotherapy to decrease muscle spasms and strengthen muscles. Cognitive behavioural therapy and group therapy, followed by individual home exercises and weekly coaching from a physiotherapist, have also been shown to be effective in reducing muscle spasms in EDS patients.
For dystonia, treatment can help relieve symptoms, and the best option depends on the type of dystonia a person has. Injections of botulinum toxin directly into the affected muscles, as well as medicine to relax the muscles, are common treatments. Physiotherapy and occupational therapy can also help. In severe cases, deep brain stimulation surgery may be considered, where a small device is inserted under the skin to send electrical signals to the part of the brain that controls movement.
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Physiotherapy for muscle spasms
Muscle spasms, also known as muscle cramps, are sudden, involuntary, and painful contractions of the muscle. They can occur in any muscle of the body, but they are most common in the legs, feet, back, arms, and hands. These spasms are usually short-lived and may resolve on their own. However, they can become persistent and require treatment.
Physiotherapy plays a vital role in treating muscle spasms. A physiotherapist will assess your condition and develop a personalized plan to target the underlying causes of your muscle spasms. They will also educate you about proper techniques and postures for work, athletic, and daily activities.
For individuals suffering from chronic muscle spasms, it is beneficial to identify the cause and find ways to prevent them. Muscle spasms can be caused by several factors, including dehydration, overuse of muscles, stress and anxiety, lack of nutrients, electrolyte imbalance, and increased blood flow demand.
Physiotherapy treatments for muscle spasms include:
- Joint mobilization
- Soft tissue mobilization, including trigger point dry needling
- Muscular retraining
- Specific exercises to improve blood flow through the muscles and strengthen the core, such as Pilates or yoga
- Relaxation techniques and stress management, such as re-education of breathing patterns
- Gentle stretching routines to improve flexibility and relieve muscle tension, especially before and after physical activity
- Heat therapy, through warm compresses or hot baths, to relax tense muscles and improve blood flow
- Ice packs or cold compresses for acute muscle spasms to numb the area and reduce swelling
In the context of Ehlers-Danlos Syndrome (EDS), particularly the hypermobile type (hEDS), muscle spasms are a common occurrence, along with muscular discomfort, nocturnal muscle cramps, low-tone muscles, and increasing muscle weakness. Physiotherapy is often beneficial for EDS patients, helping to decrease muscle spasms, strengthen muscles, and prevent joint dislocations. However, it is important for EDS patients to consult their treatment team before incorporating new workouts into their regimen to avoid high-impact activities and sports that pose a high risk of injury.
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Frequently asked questions
EDS stands for Ehlers-Danlos Syndrome, a genetic disorder that affects the connective tissues and joints. There are 13 types of EDS, most of which are rare. The most common type is Hypermobile EDS (hEDS).
EDS causes joint instability, which leads to muscle overcompensation as the muscles tighten excessively to stabilise loose joints. This can result in chronic involuntary contractions, known as dystonia. Dystonia can manifest as repetitive twisting, tremors, or abnormal postures.
EDS patients may experience nocturnal muscle cramps, low muscle tone, increasing muscle weakness, and pain. In some cases, EDS patients may also experience dystonic storms, which are severe episodes of sustained muscle contractions that can last for hours or days and can be life-threatening.
Treatment for EDS-related muscle spasms includes a combination of medical and physical therapies, such as pain medication, physiotherapy, cognitive behavioural therapy, and group therapy. Swimming, Pilates, and yoga are also recommended as gentle workouts to help manage symptoms.
