Ehlers–Danlos type III
1.4 Casus: generalysed hyperlaxity, Ehlers-Danlos type III
1.4.3 Case History
1.4.5 Request from patient and parents
1.4.6 Method and objective of treatment
1.4.8 Execution of posture resistance exercises
1.4.9 Posture resistance exercises
1 Ehlers-Danlos type III (>2017 hEDS)
Hereditary hyperlaxity of the connective tissue causes hypermobility of the joints. The motoric development of children with Ehlers-Danlos type III is often slower and they can be clumsy, have balancing problems, subluxations, experience pain in the lower extremities after exercise, growing pains, tiredness and sometimes temporary swelling of the joints. Practising a sport, movement and specific exercises early on can break through the vicious circle of increasing symptoms, inactivity and possible invalidity. The Bugnet method seems to be able to contribute effectively to patients with hypermobility (general or localised). The risk of strain and sublaxation is reduced by the specific static exercises, even during the training sessions. Motoric development and practising sport are positively affected. Chronic pain syndrome, which often occurs with Ehlers- Danlos and other hypermobility syndromes, can be avoided.
Doctors and physiotherapists often overlook hypermobility but it can be recognised by means of a simple and quick diagnostic test (e.g. Beighton or Bulbena). Usually a doctor (rheumatologist or clinical geneticist) will make the diagnosis. The physiotherapist has an important observational function because the patient often first presents the complaints to him.
Many patients with hypermobility suffer for many years. Local and variable symptoms of pain and strain can be treated but the result is often temporary. Effective treatment is not possible without an explicit diagnosis. General treatment aimed at stability training appears to have a very favourable affect on this group of patients. Starting therapy on very young patients can prevent repetitive strain and chronic pain conditions.
In practice Bugnet postural resistance therapy provides results for many patients. The way of exercising and the easy adaptation in daily life are often effective. Daily exercise and maintenance are imperative for reducing and maintaining a reduction in symptoms. Patients who have suffered symptoms for years report remarkable improvement when they start exercising according to the Bugnet method. Professional supervision by a physiotherapist, for instance, is imperative. He will compile individual exercises and ensure a gradual build up. It is important that patients execute the exercises properly otherwise severe symptoms could occur and the existing symptoms could worsen. In fact the method exercises the whole patient. This helps a lot of strength to be developed in the muscle chains. Good coordination of the muscle groups used is a basic condition: only after the muscles / muscle groups learn mutual synchronisation and to work together can the strength development be trained in a responsible fashion.
1.4 CASE I, Generalised hyperlaxity, Ehlers-Danlos type III (HDCT)
The case description below of a patient with the hypermobility syndrome, Ehlers-Danlos type III, is intended to show how the Bugnet postural resistance therapy can effectively contribute to improving everyday posture and movement. It seems that specific symptoms occurring with this hereditary disorder can be reduced and prevented by starting therapy at a young age.
For more information you are referred to the existing literature and the general section about hypermobility and the Bugnet exercises for hypermobility on this website.
A clinical geneticist diagnosed an 8-year old boy with generalised hyperlaxity, Ehlers-Danlos type III with posture and movement problems. The boy then visited a child physiotherapist a couple of times for his motoric retardation. The physiotherapist advised him to participate a lot in sports.
When he was eleven he visited another physiotherapist. His parents think that he performs less well in sport and play activities than his peers. In addition his general clumsiness is noticeable. The boy moves unsteadily. The parents report that their son has a floppy / shuffling way of walking and that they have not been successful in changing this. The parents also say that the boy is troubled with recurrent subluxations of the ankle joints.
1.4.3 Case history
- Left behind when running during hockey, football and gymnastic lessons;
- General clumsiness, stumbles and becomes tired quickly;
- Problems with tasks during school gymnastics (e.g. press-ups, climbing the wall bars);
- Problems with writing (tempo and execution);
- Subluxations (ankles).
- The first impression: a tall boy for his age.
- Examination when standing: S-shaped posture with concave cervical, thoracic and lumbar curves, fallen arches on both sides, pronation position of the ankles, slight valgus position and hyper extension of the knees, passive and slightly slouched posture with protraction position of shoulder girdles. Muscles in lower extremities are reasonably well-developed; torso and upper extremities are less well developed.
- Gait pattern: little lifting of feet and push off, with completion of the footstep over the medial foot edge, excessive pronation of the left ankle with bowing of the Achilles tendon (Helbig's sign). The torso is kept tense and there is little torso protation. The left arm is held clamped against the body.
- Transfers: the use of adductions/ flexion predominates, the abduction/exorotation/extension chains, which could provide more stability, are used less. For instance: the knees are clamped together when standing up from a sitting position.
- The weak shoulder stability is apparent when the upper extremities are used - on the right more than on the left (left-handed): use of the arms gives protraction and elevation of the shoulder girdles, increasingly so for more strenuous tasks.
- The total vertebral column gives little stability when the arms/legs are used: for instance: the thoracic vertebral column kyphoses and the cervical vertebral column hyperlordoses when lifting.
- Everyday movement is uncoordinated and accompanied by other movements. The instability in various joints is noticeable and makes intentional, functional movement difficult.
- Specific tests (Beighton) confirm the hypermobility.
1.4.5 Request from the patient and parents
Improvement of the motoric to develop and maintain the enjoyment of sports and movement and to reduce the general clumsiness.
1.4.6 Method and objective of the treatment
Bugnet posture resistance therapy to improve the stability and mutual working of the joints for posture and during movement.
This creates the opportunity to move more efficiently and purposely in everyday life, the symptoms of tiredness could decrease.
- Explanation, in view of the fact that the patient does not appear to understand the cause of the problems;
- Increase and improvement of (muscular) stability in posture and during movement;
- Increase of stamina, coordination, less additional movement;
- Support soles and advice about footwear;
- Supervised sport/games: participation in the group, prevention of strain and subluxations;
- Writing training by a specialist in this field.
1.4.8 Execution of posture resistance exercises
- At home: exercises must be done at home everyday to make any sort of progress. Patient and parents are very enthusiastic. After discussions the father will take over the job of exercising. A treatment table and a rubber mat (for optimum resistance) will be provided. Father receives posture instructions with the exercises so that strain is prevented.
- Physiotherapist: starts with once weekly therapy and will cut back to 1x per 2 weeks, 1x per month and 1x per six months when possible. Boy usually comes to the therapy sessions with his mother; she supervises, signals any changes and consults with the physiotherapists.
1.4.9 Posture resistance exercises
In view of how weak most muscle groups are, the physiotherapist chooses exercises from the page of the Bugnet book ‘Patients with paresis’ (p. 145 e.v*.). The exercises chosen are adapted individually and practised daily: ‘just do them like brushing your teeth’, positive encouragement /reward, long term scheme. Initially exercises in a prone position were chosen to gain maximum information from the underlayer. Two exercises were selected after muscle and joint tests. The emphasis in the first exercise lies with total extension of the body. In the second exercise the rotators, the stronger stabilisers of the joints, are also activated.
A good starting position is important in respect to the prevention of strain symptoms. The physiotherapist will pay attention to compensation when setting up exercises. Resistance must not be built up too quickly; otherwise the patient will lose joint stability. For instance: BE: the shoulder girdle goes into protraction/ elevation and the wrists in plantair flexion. OE: dorsal flexion will dominate pronation and the ankle/foot will underpronate.
The patient has enough support necessary to prevent hyperextension/ too much pelvic tilt etc.
The exercises ensure maximum stimulation, which includes muscular manipulation. The positions are carefully chosen and the resistances set individually for optimum joint positions.
The patient's helper must supervise from the correct position to prevent strain symptoms.
The build-up to everyday positions follows when the patient has achieved sufficient coordination in the prone starting position. In this way the patient may exercise for shorter or longer periods so that the stability developed can be used by the patient more and more automatically in everyday life (ADL).
The patient has had a growth spurt. It is estimated that he will grow to a height of about two metres. This means that gaining coordination will be difficult: the musculature must continually adapt to the changing situation. After a month the two prone exercises are adapted and expanded with seated exercises. The coordination between shoulder girdle and vertebral column has now been trained sufficiently. When the shoulder girdle is positioned correctly the back is well stabilised and no longer hollow. The reason for a seated exercise is so the patient can apply and use the taught posture reflex exercises at school everyday.
The writing is quicker and better after a couple of months. The general clumsiness had also become less. The patient became more self-assured. This will be a great help when he transfers to secondary school. The patient says that sport is better; that he is more able to keep up with his team mates and that he is less tired afterwards. His mother reports that she no longer hears the shuffling way of walking. The patient is very motivated and exercises daily with his father. He enjoys exercise again. After two years a prone exercise, an exercise sitting at a table or desk and an exercise in the standing position were selected. These exercises are necessary to maintain total stability and to keep training the basic posture reflex activities. The patient uses the three exercises ten times a day in everyday posture and movements.
Attention has always been paid to sport: he swam until he was eleven years old (three diplomas) and then he played football for the period that he was at primary school. When he was twelve and went to secondary school he substituted hockey for football. In addition he would like to try a fitness centre. Fitness is good for combining static and dynamic training and to work from closed to open chains. A number of points are of importance: gradual build up to prevent relatively quick strain and support soles in the sport shoes. No reports of strain symptoms in the shape of joint pain, muscle-tendon symptoms etc. Intervention was necessary once when shoulder girdle stability was not maintained during weight lifting in a sitting position. External forces and weights threaten the position taken: the resistance - in the form of weights - was (still) too heavy. In this case the patient had to return to a Bugnet exercise. When there is sufficient control of the shoulder girdle, the weights may be increased and/or a more dynamic component will be added, weight-lifting with lower arms and then with lower and upper arms etc. for example.
Control takes place once or twice a year and more often if the patient requires.
He reports slight hip symptoms when he is fifteen years old. During running training (for the hockey training) he can hear a clicking noise. This indicates a slight dislocation/subluxation of the hip. During examination it appeared that completion by the left foot is not enough over the lateral edge of foot, the deep hip musculature does not flex enough to generate stability and therefore the ossal stability is not utilized enough (ball not far enough into hip socket) during the exercise. One prone and one seated exercise have been adapted and the running training continues after two weeks without any problems. After a number of months of training the patient successfully completed a ten kilometre running competition!
A combination of therapy and sport is recommended to optimize the everyday posture and movement of a patient with Ehlers- Danlos III. A sport can be chosen when the therapy is successful. A number of sports seem to be less suitable because of the greater risk of strain symptoms and early onset arthritis (reported with hypermobility syndromes). For instance swimming and cycling should be chosen before running. Supervised fitness activities offer a good opportunity to maintain / improve posture, movement and condition. The application of the principles from the Bugnet method appears to work favourably when taking part in sport. Joint stability reduces the risk of strain, muscle-tendon injury and subluxations. A stable torso for instance makes it possible to execute arm and leg movements with more coordination and strength. Good joint feeling (ropriocepsis) helps correct posture and movement. The patient feels for example the correct range of movement and can prevent the utmost positions which have to be avoided in the case of hypermobility. More efficient movement reduces the risk of strain and injury and tire the patient less. The general condition can be trained. The use of support soles and soft braces for example can help during sport.
The patient comes into a downward spiral of even more pain, inflammatory reactions, subluxations, tiredness, clumsiness and -in the case of children - motoric retardation when not moving enough or taking part in sport as we often see in (chronic) pain situations.
The Bugnet posture resistance therapy gives the patient (and parents) the opportunity to break through this vicious circle on an individual level.
G.H. Lenselink-Kamphuis; July 2010.