Ehlers Danlos Syndrome (EDS)
Ehlers Danos Syndrome (EDS) is a genetic disorder of connective tissue, inherited as an autosomal dominant, which means only one of the two copies of the genes for EDS must be altered to cause the disorder. If a person has EDS their child has a 50% chance of having the same type of EDS as the parent. Some types of EDS are caused by a recessive pattern or a gene mutation when neither parent has EDS. A geneticist is required to confirm a diagnosis of EDS because there are many other diseases which can cause hypermobility.
EDS is a disease of connective tissues where connective tissue proteins such as collagen are formed aberrantly making the connective tissues more fragile and elastic. The function of connective tissue includes shock absorption, transmission of mechanical forces- tension, protection from infection- portion of reticuloendothelial system , and separation of muscles, and other structures to allow independent motion while joining them together as a unit.
Connective tissues include tendons, ligaments, fascia, adipose, blood cells, and bone. In EDS the repair process is inadequate to form normal collagen fibers or produce inadequate amounts of collagen, the result is typically joint laxity which may result in partial (subluxation) or complete disruption (dislocation) of the joint.
There are 6 categories of Ehlers-Danlos syndrome:
Type I and II – Classical: Signs include skin hyperextensibility, tissue fragility and joint hypermobility. Inherited in an autosomal dominant or recessive manner.
Type III – Hypermobility: Most common type, To date, no distinctive biochemical collagen finding has been identified by researchers. Inherited in an autosomal dominant manner. Joint hypermobility is the dominant characteristic, may have joint subluxation and dislocation, limb and joint pain.
Type IV – Vascular: organ fragility with the possibility of arterial or organ rupture, tendon or muscle rupture, joint hypermobility primarily in the digits, particularly serious because of possible arterial or organ rupture. Inherited in an autosomal dominant manner.
Type V – Arthrochalasia: Inherited in an autosomal dominant manner. Can also be diagnosed by skin biopsy. Signs include congenital hip dislocation, severe generalized joint hypermobility, recurrent subluxations, tissue fragility, and muscle hypotonia.
Type VI – Kyphoscoliosis: Very rare; Signs include kyphoscoliosis, generalized joint laxity, tissue, organ fragility, hypotonia, fragility of eyes and arteries. Inherited in an autosomal recessive manner. Can be diagnosed through a urine test.
Type VII – Dermatosparaxis: Very rare. Inherited in an autosomal recessive manner. Can be diagnosed by skin biopsy. Signs include severe skin rigidity, skin soft and doughy, and may have large hernias.
The primary joint stability is the result of anatomical alignment of joint surfaces and the ligaments surrounding the joint. In the condition of joint hypermobility which is the primary problem in EDS, the secondary stabilizers, the muscles are found to be in spasm, in order to help stabilize the joint. A muscle in spasm will appear rigid and inelastic, but not due to true tightness, but as a result of a facilitated nervous system. Muscles in spasm are maintained in that state by the central and peripheral nervous system.
A muscle in spasm is painful in part because it will have reduced blood flow. With a reduced blood flow the tissues become hypoxic and there may be a buildup of lactic acid. Without normal blood flow to remove these substances the tissues become irritable and painful to touch. The tissues may feel stiff, but they do not need stretching, because the tissues are inherently lax in EDS, stretching will further compromise their stability. The goal of treating muscle spasms is to normalize the output from the gamma motor neurons which results in facilitation of the muscle spindle, making the muscle much more reactive to stretching. Effective manipulation is that which results in resetting of the gamma gain, and therefore results in normalization of the movement characteristics of the joint and periarticular tissues. An excellent method of treatment for this condition is strain/counterstrain treatment, which gently positions the tissues in a shortened arc of movement for a period of time. The length of time (90 seconds to 5 minutes) allow the muscle spindle to underreport to the central nervous system long enough to allow the suprasegmental (CNS) influences to decrease, relaxing the muscle, and the gamma output. If a muscle has been “released” strengthening of these muscles in a neutral joint position will follow.
Patients with EDS also frequently have altered sensory awareness of where their joints are in space (proprioception), which further complicates the ability of the patient to protect themselves from injury. The muscles when functioning properly provide feedback through a small muscle fiber inside the muscle itself, called the muscle spindle (considered the primary proprioceptor). When the muscle is activated it is much more likely to provide this feedback. Joints are likely to be injured when they are in a non-neutral position, and especially when at an end range, such as when the knees are hyperextended. To the patient they may not notice their knees are locked up because of the sensory aberration, but their ligaments do. Ligaments which are loose typically will be inflamed by the overstretching resulting in pain. Patients with EDS require dynamic and static stability, strengthening in a neutral position for each articulation. We are going to ask the patient to contract the muscles gently and sustain the contraction for a period of time. Strengthening the muscle in a somewhat shortened range of muscle length will help establish the sensitivity and improved functioning of the sensory feedback system in the muscle.
Other conditions which typically are found in patients who have Ehlers-Danlos syndrome include orthostatic intolerance, dysautonomia, Mast cell activation syndrome, tethered cord, Chiari malformation, cranial instability and those with vascular EDS arteriole or organ ruptures. Patients may also have allergies to tape, gastrointestinal issues such as IBS, food and drug allergies.
Physical Therapy is an important component of the treatment of EDS, and the staff at SP.OR.T.S. are expert in their assessment and treatment of EDS patients. Please request free consult at Silver Spring, MD center to have one of our experts to evaluate your condition.