This disease often appears in childhood and is considered to be inherited, however some patients have no previous history of Engelmanns Syndrome within their family. The disease is slowly progressive and, while there is no cure, there is treatment.
The most common mutation causing Engelmann syndrome is in the gene encoding for the TGF-β2 receptor.
Clinically, patients complain of chronic bone pain in the legs or arms, muscle weakness (myopathy) and waddling gait. Some other clinical problems associated with the disease are increased fatigue, weakness, headache and delay in puberty. Some patient have an abnormal or absent tibia, flat foot or scoliosis.
This disease may also cause bones to become abnormally hardened which is referred to as sclerosis. This hardening may affect the bones at the base of the skull or those in the hands, feet, or jaw. This causes pain and aching within the body part that is affected. The pain has been described as a hot stabbing pain, or a constant ache that radiates through several long bones at once. Pain may also occur in the hips, knees and other joints as they essentially just 'lock-up' (often becoming very stiff and sore), mostly when walking up or down staircases, or during the colder months of the year.
The pain is especially severe during a 'flare-up'. This is a common occurrence for several CED patients, often causing myopathy and extensive sleep deprivation from the chronic disabling pain. Patients may even require the use of a wheelchair, especially after being bedridden or housebound for days or weeks at a time. 'Flare-ups' may be attributed to, or exacerbated by illness, stress, exhaustion, infection, exercise, standing or walking for too long, cold weather, electrical storms, and sudden changes in barometric pressure.
Alternative treatments such as massage, relaxation and heat therapy have been successfully used in conjunction with pain medications, especially during flare-ups. Listed below is several support groups for patients and their families living with Engelmanns Syndrome. The compassion and friendship provided by these online support groups (including patients from the UK, USA, New Zealand, Italy, Australia and Canada) can be invaluable in helping to treat Engelmanns Syndrome. They also provide links to having DNA genetically tested for specific mutations. With further genetic research a treatment or cure may hopefully be found in the near future.