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Ayurvedic Management Of Spondyloepiphyseal Dysplasia Tarda (SEDT)

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare form of a genetic disorder [1] . In this condition, a patient suffers from short stature with a short trunk and neck. The person will have disproportionately long arms and skeletal features such as kyphosis, scoliosis, early arthropathy and barrel-shaped chest [2] . Modern medicine only provides limited medical and surgical management of this condition. In terms of Ayurveda, this deformity is known as Vata Vyadh [3] and is believed to be treated well with the use of Panchakarma therapy.

Read on to know how studies indicate that Ayurvedic herbs along with the use of Panchakarma can play a vital role in the successful management of this hereditary disorder.

What Is Spondyloepiphyseal Dysplasia Tarda (SEDT)?

SEDT is an X-linked hereditary skeletal disorder [1] . The disorder is typically not noticed during or just a few days or months after birth. It ideally begins to appear in childhood between the ages of 6 to 10 years [4] . This disease is said to occur due to the mutations in the TRAPPC2 gene [5] , the one which is responsible for providing the instructions for producing the protein sedlin.

TRAPPC1 is expressed in tissues throughout the body. However, when mutated it only affects cartilage. The protein, sedlin, is responsible for playing an important role in the transportation of proteins between various cell compartments [6] . This disease affects the epiphyseal growth (being primarily related to the shoulders, knees and hips). The following signs are noticed in a person with this disorder [7] :

  • Short stature
  • Short trunk
  • Barrel-shaped chest
  • Arm span that is significantly greater than their height
  • Progressive back pain and joint pain
  • Development of osteoarthritis mainly of the hip, knee and shoulder joints

People born with this defect usually have a normal length and body proportion at birth. Even until a few years after birth, these people show normal motor and cognitive milestones. However, around the age of six to eight years, retarded linear growth begins to appear.

The diagnostic markers for people with this ailment include the following [8] :

  • Platyspondyly (flattened vertebral bodies) with characteristic superior and inferior humping seen on the lateral view
  • Scoliosis (sideways curvature of the spine)
  • Narrow disc spaces
  • Coxa Vara (deformity of the hip)
  • Signs of osteoarthritis that begin in young adulthood

Ayurveda For Spondyloepiphyseal Dysplasia Tarda (SEDT)

As only limited medical and surgical management of SEDT are available in modern medicine, people have opted for Ayurvedic treatment for this disease [9] . Ayurveda describes the signs and symptoms fo SEDT at various stages as being quite similar to the various Nanatamaj Vata Vyadhi (diseases that occur due to Vata dosha) [9] .

Therefore, when a diagnosis for SEDT is conducted by Ayurvedic experts, they describe this illness as Vata Vyadhi. A successful clinical study was done on a 15-year-old patient suffering from SEDT. This patient showed immense improvement in his condition when treated using Panchakarma therapy [10] and selected Ayurvedic oral medicines.

A Case Study On Treating Spondyloepiphyseal Dysplasia Tarda (SEDT)

A 15-year-old male was who showed signs fo SEDT was consulted by an Ayurvedic expert. The complaints with which the patient arrived were short stature, deformity of the hands, elbows and knees, low backache, stiff joints, difficulty in walking and squatting and difficulty in breathing on exertion.

The patient had begun to show the signs of this illness after the age of 5 years. In spite of receiving non-steroidal anti-inflammatory medicines along with various analgesics, the patient's condition did not improve. After modern medicine did not seem to work, the patient was sent for Panchakarma therapy.

Ayurvedic experts examined the patient's condition and identified the following symptoms [9] :

  • Disturbed sleep
  • Constipation
  • Improper digestive functions
  • Rough skin
  • Lean body

It was identified that the patient was in the Niramasvastha stage of the disease. This stage is considered to be a phase where the Ama is affected. The patient was found to have Vatapitta Prakriti [10] with Avara Sara (suboptimal body tissue), Avara Samhanana (suboptimal body built), Vishama Pramana (unequal body proportion), Avara Satmya (suboptimal homologation), Avara Vyayamshakti (suboptimal capability to carry on physical activities), Madhayam Satva (medium mental strength) and Jaranshakti (medium food intake and digestive power).

The patient also demonstrated the following signs [11] [12] :

  • Limited internal and external rotation of hips
  • Limited internal and external flexion and abduction of shoulders
  • Limited extension of elbows and knees
  • Swollen proximal phalangeal joints with flexion deformity
  • Abnormally long toe
  • Short neck with thoracic kyphosis and scoliosis

Ayurvedic Management Of Spondyloepiphyseal Dysplasia Tarda (SEDT)

In Ayurveda, SEDT is diagnosed as Vata Vyadhi. As the disease is chronic in nature, Ayurvedic management is directed towards working on the various symptoms and complications of the disease. The general management of this condition involves the application of the following:

  • Snehana (oleation) [13]
  • Svedana (sudation) [14]
  • Mridu Virechana (mild purgation) [15]
  • Basti (medicated enema) [16]

Basti is considered the best treatment methodology for treating Vata Vyadhi.

The treatment strategy is as follows [9] :

  • Mridu Virechan should be consumed along with castor oil and milk. The dose is 20 ml for the first 3 days.
  • Shalishastika Pinda Svedana should be consumed from the 4th day onwards for a month along with Muladi Yapana Basti. This should be consumed for 16 days.
  • Alongside Shalishastika Pinda Svedana, Abhyanga (massage) along with Asvagandha Taila is considered quite helpful.

The above procedures are repeated after an interval of two months.

The following oral Ayurvedic medicines are also recommended for consumption by a patient suffering from SEDT [9] .

  • Trayodashanga Guggulu - 500 mg twice a day
  • Dashmool Kvatha (decoction of the roots of 10 herbs) - 500 mg twice a day
  • Dashmoolarista - 20 ml mixed with equal amounts of water twice a day.
  • Shiva Gutila - 500 mg twice a day
  • Eranda Paka - 10 g twice a day
  • Experts run clinical assessments on the patients after each round of the treatment.

Ayurvedic Treatment Results In Patients With Spondyloepiphyseal Dysplasia Tarda (SEDT)

The treatment results were as follows [9] :

  • Walking and lung capacity improved.
  • Kyphosis and scoliosis were significantly reduced.
  • There was an increase in the patient's weight. This is attributed to the effects of Brihmana (nourishment) and Srotosodhana (purification of channel) of the therapy.

On A Final Note...

SEDT is a hereditary musculoskeletal disease that can be managed very well through Ayurvedic techniques. Patients with SEDT highly benefit through Panchakarma therapy. The manifestation of the disease can be limited if a patient approaches an expert in the early stages of the illness.

View Article References
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  2. [2] Mandal, S. K., Ghosh, S., Mondal, S. S., & Chatterjee, S. (2014). Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract.BMJ case reports,2014, bcr2013202938.
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  5. [5] Westlake, C. J., Baye, L. M., Nachury, M. V., Wright, K. J., Ervin, K. E., Phu, L., ... & Sheffield, V. C. (2011). Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.Proceedings of the National Academy of Sciences,108(7), 2759-2764.
  6. [6] Venditti, R., Scanu, T., Santoro, M., Di Tullio, G., Spaar, A., Gaibisso, R., … De Matteis, M. A. (2012). Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.Science (New York, N.Y.),337(6102), 1668–1672.
  7. [7] Ryu, H., Park, J., Chae, H., Kim, M., Kim, Y., & Ok, I. Y. (2012). X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.Annals of laboratory medicine,32(3), 234–237.
  8. [8] Mumm, S., Zhang, X., Gottesman, G. S., McAlister, W. H., & Whyte, M. P. (2001). Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2‐Base Pair Deletion in SEDL Encoding Sedlin.Journal of Bone and Mineral Research,16(12), 2245-2250.
  9. [9] Singh, S. K., & Rajoria, K. (2016). Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder.Journal of Ayurveda and integrative medicine,7(4), 249–254.
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Story first published: Tuesday, June 4, 2019, 10:22 [IST]
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