Kyphoscoliosis Hereditary Sensory Autonomic Neuropathy III

Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, psychological issues emanating from anxiety about acceptance among peers, especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne muscular dystrophy due to asymmetric weakening of the paraspinal muscles.

Signs and symptoms

The following are clear signs of Kyphoscoliosis:
* Abnormal hunch along with a presence of S or C-like shape.
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* Presence of associated disorders like hypertension, neurological disorders
* Abnormal gait

Kyphosis

Kyphosis by itself refers to an excessive convex curvature of the spine occurring in the thoracic and sacral regions. A normal thoracic curvature from the 1st to the 12th spine has a naturally occurring convex shape with angles ranging from 20 degrees to 45 degrees. When the curvature goes past 45 degrees, the condition is termed as Kyphosis.

Kyphosis, depending on the extent of curvature, can result in many discomforts including breathing and digestion difficulties, cardiovascular issues, and neurological issues.

There are several forms of kyphosis, including postural (related to slouching), Scheuermann's kyphosis (found mostly in teenagers), congenital, nutritional, osteoporosis-induced and post-traumatic.

Depending on the type of kyphosis, the extent of curvature, the age of the patient, different treatments may be recommended, including the provision for posture correction, braces, physiotherapy, and surgery. Surgery can be most useful in patients who have an extensive deformity. The rate of post-surgery complications may be higher in elderly patients.

Scoliosis

Scoliosis refers to a form of abnormal spinal curvature in which the person's spine takes an "S" or "C" shape. Scoliosis has forms of treatments available similar to those for kyphosis including bracing, physical therapy and various types of surgeries. Typically, a human spine is straight laterally, but in scoliosis patients, there may be a curve of ten degrees in either direction, left or right.

Cause

Kyphoscoliosis may manifest in an individual at different stages of life and for various causes. When present at a young age ranging from childhood to teenage, kyphoscoliosis may be present from birth due to congenital abnormalities including spina bifida.

Certain infections can also lead to the development of kyphoscoliosis such as vertebral tuberculosis or general tuberculosis. Osteochondrodysplasia, a disorder related to the development of bone and cartilage, can also cause this disease.

In later ages, kyphoscoliosis can occur in patients with chronic degenerative diseases like osteoporosis and osteoarthritis. This type of incidence is usually seen in patients above 50 years of age and is mainly attributed to structural changes in the spine and adjoining tissues. Sometimes, a traumatic injury can also lead to its development.

Further, there are many idiopathic occurrences of kyphoscoliosis where the exact cause is not very well known but is suspected to be caused by genetic factors.

Diagnosis

Kyphoscoliosis is one of the main criteria in kyphoscoliotic Ehlers–Danlos syndrome. It is caused by mutation in the PLOD1 gene and/or FKBP14 gene. The diagnosis is confirmed by molecular testing and suggested when a patient meets criteria 1 and criteria 2: congenital muscle hypotonia and congenital or early onset kyphoscoliosis (progressive or non-progressive), respectively.

Treatments

The decision to choose a particular treatment approach very much depends on multiple factors such as the age of the patient, understanding the root cause of the condition i.e. postural, congenital, etc., risks involved in surgery for the patient, etc.
* Physical therapy: When the extent of curvature is mild, and the underlying cause is bad posture, and then physical therapy becomes the first line of treatment. Physical therapy may also be advised for other causes as well to delay the development of abnormal curvatures, such as in the case of elderly patients with the degenerative disease of bones and cartilage. The primary objective of physical therapy is to strengthen the spinal tissues for either correcting the curvature to the maximum extent possible or contain further damage.
* Back braces: In the cases when the underlying reason for deformity is postural and is detected before the growing age of bones, braces can be used. Braces provide support to the muscles and bones, as well as apply corrective pressure to reduce the curvature. The braces for kyphoscoliosis have to be designed such that it becomes effective with both abnormal curvatures in the coronal and sagittal plan. The latest in brace design is through the use of CAD/CAM, which is available only in few developed countries such as Germany. The efficacy of braces for correcting curvature issues has been analyzed by a few studies. In one such study, it was found that bracing led to successful outcomes in 72% of patients and correlated strongly with hours of braces worn. However, compliance with wearing braces for a period up to 18 hours or more can be physiologically and psychologically limiting, especially when one considers the teenage period.
* Surgery: see below.
* Oxygen on long term may be necessary in patients with significant hypoxemia.

Surgery

Surgery is usually indicated when the extent of deformity is large, causes issues in physiological functions such as breathing, interferes with the daily activities or is cosmetically unacceptable to the adult. It is also advised when the patient has passed the age where other therapies such as braces are no longer effective. Kyphoscoliosis implies that the patient has both types of curvature deformity.Docti Posture
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The decision to undergo surgery or not is always a complex one, but sometimes, it becomes inevitable such as when the deformity begins to interface with crucial physiological functions like breathing or makes every day normal activities extremely painful. Sometimes, patients in their early adulthood may choose to have surgery because the presence of such deformity causes social issues such as acceptability among their peers, a disability that comes in the way of working, etc. In the case of elderly patients who have such deformity triggered at a later age, other factors are to be considered such as the presence of underlying disease that caused it, whether a progressive decline is expected, and if conservative treatments using physiotherapy or drugs have failed to give relief from debilitating pain.

Surgical correction is attempted in some to fix the spine and arrest progression of the deformity. Surgical operations may include the use of spinal implants like the Harrington Rod, or the VEPTR.

Risks of corrective spine surgery: studies

Another study which focused on elderly patients found that the rate of complications was much higher for a sample population of 72 cases with mean age of 60.7 years. The rate of complications was as high as 22% in the entire sample. The study points that in the case of elderly patients, surgery should only be considered when there is no other option left; the disease is in progression stage, and the quality of life has degraded to an extent where conservative treatments can no longer help with pain.

While there are many surgical approaches for spinal deformity correction including anterior only, posterior only, anterior-posterior, the techniques that are most popular nowadays include the posterior only VCR or pVCR. One of the studies which analyze pVCR technique also noted the benefit of using a technique called NMEP monitoring in assisting the surgeon avoid any neurological complications while performing a spine surgery.

See also

* Lordosis
* Pott's disease
* Ehlers-Danlos Syndrome

References

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* Bracing adolescents with idiopathic scoliosis; Journal of Paediatrics and Child Health, Volume 50 (5) – 1 May 2014
* Effects of bracing in adolescents with idiopathic scoliosis by Weinstein S.L., Dolan L.A., Wright J.G. & Dobbs M.B. (2013) The New England Journal of Medicine, 369, 1512 – 1521.
* Surgical treatment of adult degenerative scoliosis; Matteo, Palmisano; Eugen, Dema; Stefano, Cervellati; European Spine Journal, Volume 22 (6) – 1 Nov 2013
* The posterior surgical correction of congenital kyphosis and kyphoscoliosis: 23 cases with minimum 2 years follow-up; Yan, Zeng; Chongqing, Chen; Qiang, Qi; Zhaoqing, Guo; Weishi, Li; European Spine Journal, Volume 22 (2) – 1 Feb 2013
* Complication rate in adult deformity surgical treatment: safety of the posterior osteotomies; Giovanni, Maida; Francesco, Lucero; Francesco, Gallozzi; Marcello, Ferraro; Maggi, Bernardo; European Spine Journal, Volume 24 (7) – 1 Nov 2015
* Vertebral Column Resection for the Treatment of Severe Spinal Deformity; Lawrence, Lenke; Brenda, Sides; Linda, Koester; Marsha, Hensley; Kathy, Blanke; Clinical Orthopaedics and Related Research, Volume 468 (3) – 1 Mar 2010
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External links

{{DEFAULTSORT:Kyphoscoliosis
Skeletal disorders
Congenital disorders of musculoskeletal system
Deforming dorsopathies