|Year : 2022 | Volume
| Issue : 1 | Page : 17-21
Improvement in childhood limb-girdle muscular dystrophy with Ayurvedic management: A case report
MK Lekshmi, Alka Chouhan, Anjali Sam, Rakhi Krishanan
Department of Kaumarabhrithya, Government Ayurveda College, Hospital for Women and Children, Poojappura, Thiruvananthapuram, Kerala, India
|Date of Submission||04-Jun-2021|
|Date of Acceptance||04-Mar-2022|
|Date of Web Publication||20-Apr-2022|
Dr. M K Lekshmi
Department of Kaumarabhrithya Government Ayurveda College, Hospital for Women and Children, Poojappura, Thiruvananthapuram - 695 012, Kerala
Source of Support: None, Conflict of Interest: None
The Limb-Girdle Muscular Dystrophies (LGMDs) include a heterogeneous group of disorders characterized by the progressive wasting and weakness of the proximal limb-girdle muscles. Sarcoglycanopathies are forms of LGMD that result from defect in the sarcoglycan complex. Ayurveda explains the condition in the line of Srotorodha (~obstructive pathology occurring in channels), especially at the Mamsa dhatu (~muscle tissue) level. This is the case report of an eight year old male child of autosomal recessive LGMD with no relevant family history. The patient was presented with gradual onset of proximal muscle weakness in all four limbs for two years along with pseudohypertrophy of bilateral calf muscles. He had elevated Creatine Phosphokinase (CPK) level and the genetic test findings revealed a homozygous missense variation in exon 2 of the SGCA gene. He visited the outpatient department of the tertiary Government Ayurveda Hospital and Ayurveda medications were administered along with dietary advices for two months followed by in-patient management for one month. There was a significant improvement in the clinical findings assessed by the Vignos scale of lower extremity and Barthel index along with reduction in the level of CPK value after three months of Ayurvedic management. Significant improvement in this short period of management substantiates the benefit of Ayurvedic medicines in the management of LGMD.
Keywords: Creatine phosphokinase, limb-girdle muscular dystrophy, sarcoglycanopathy
|How to cite this article:|
Lekshmi M K, Chouhan A, Sam A, Krishanan R. Improvement in childhood limb-girdle muscular dystrophy with Ayurvedic management: A case report. J Ayurveda Case Rep 2022;5:17-21
|How to cite this URL:|
Lekshmi M K, Chouhan A, Sam A, Krishanan R. Improvement in childhood limb-girdle muscular dystrophy with Ayurvedic management: A case report. J Ayurveda Case Rep [serial online] 2022 [cited 2022 May 28];5:17-21. Available from: http://www.ayucare.org/text.asp?2022/5/1/17/343503
| Introduction|| |
Muscular dystrophies are a heterogeneous group of inherited disorders caused by mutations in genes encoding a protein, which is essential for normal muscle function. In this condition, there will be progressive degenerative muscle weakness and loss of muscle tissue. Limb-Girdle Muscular Dystrophy (LGMD) is a type of muscular dystrophy that causes weakness and wasting (atrophy) of the voluntary muscles of the shoulder and hip areas. In the beginning stage, Waddling gait is noticed due to weakness of the hip and leg. The affected individuals may have difficulty with stair climbing, getting out of chairs and raising from the floor. The patient may struggle in keeping the arms above the head for doing activities like combing the hair if the shoulder region is affected. There are two major types of LGMD. LGMD1 is the autosomal dominant variant and autosomal recessive is LGMD2 (with 17 subtypes). The most common form of LGMD is type 2A caused due to mutations in the CAPN3 gene. Sarcoglycanopathies constitute a subgroup of LGMD due to defects in the sarcoglycan complex and the trans-membrane complex comprises of five distinct proteins. Weakness of proximal muscles is the main feature of the disease, along with calf hypertrophy, scoliosis, contractures, cardiomyopathies, and respiratory problems. In Ayurveda, these types of genetic disorders come under Aadibalapravrutta vyadhi (~genetically predisposed diseases). The concept of Dhatwagnimandya (~poor tissue metabolism), Ama (~metabolic toxins) formation, Kapha vrudhi (~aggrevation of Kapha), and Vata dushti (~vitiation of Vata) were considered while treating this case, where encouraging results were observed.
| Patient Information|| |
An eight year old male child, native of Andhra Pradesh reported to the outpatient department with complaints of difficulty climbing stairs, frequent falls while walking, difficulty in raising from squatting position, and pseudohypertrophy of calf muscles for two years. He had a history of febrile seizures at 3–4 years of age. He is the third child of non-consanguineous parents and was born through full term Lower Segment Cesarean Section (LSCS) due to oligo hydramnios, and the previous two deliveries were already done by LSCS. He had a birth weight of three kilograms. The baby cried soon after birth with a normal sucking reflex and the neonatal period was uneventful. All developmental milestones attained properly up to six years of age. Then, only the mother noticed the above-mentioned difficulties. There was no relevant family history. They consulted a local pediatrician, who advised for physiotherapy. He underwent physiotherapy for only one month. Later, they stopped it because the child was not able to follow procedures of physiotherapy. Creatine Phosphokinase (CPK) levels were elevated. Then, genetic analysis was performed and diagnosed with LGMD.
| Clinical Findings|| |
On examination, vital signs and higher mental functions appear normal. Abnormal broad-based waddling gait with mild lumbar lordosis was present. Pseudohypertrophy of bilateral calf muscles was present in association with hypotonia of the limbs. Arrhythmia, chest pain, and respiratory complications were absent. Both the Gower's sign and valley sign were present in this case. After a systematic examination, the treatment protocol was planned based on Doshas (~regulatory functional factors of the body) and Dushyas (~which gets vitiated).
| Timeline|| |
The detailed timeline of the patient's treatment and outcomes are enlisted in [Table 1] and [Table 2].
| Diagnostic Assessment|| |
Serum CPK levels on 12/11/2019 were elevated and were 27,213 U/L. Genetic analysis for DMD deletion/duplication conducted on 17/12/2019 reported that no pathogenic or likely pathogenic variants causative of the suspected phenotype has been identified. Genetic analysis for muscular dystrophy and congenital myopathy panel gene conducted on 16/03/2020 identified a Gene SGC (+) located on Exon 2, variant C.100 >T (P. arg 34cys) and diagnosed the condition as homozygous, autosomal recessive LGMD.
| Therapeutic Interventions|| |
After thorough examination in the outpatient department, the patient was given internal medicines for three months, along with dietary restrictions. Initially, the patient was given Shad dharanam tablet (500 mg twice daily after food) for Pachana (~enhancing metabolic fire) and Dantyarishtam (10 ml twice with equal amount of water daily after food) as Sroto shodhana (~purification of channels)., Dhanwantaram avarti 101 (0.25 ml with milk twice daily before food) and Gandha tailam (0.25 ml twice daily before food with milk) were given after one week onwards for improving the power of muscles. Udwartanam (~rubbing of medicated powder on body) with Kolakulathadi churna was done by mother at home for two weeks as part of outpatient management (14 days). It was followed by Abhayangam (~oil massage) with Karpasasthyadi tailam and Udwartanam on alternate days (Udwartanam seven days and Abhyangam seven days) along with internal medicines. After 1 month, Sivagulika (25 g daily morning after food) was also added with internal medicine for 20 days, as a rejuvenative. [Table 1] After that, the child was admitted at the tertiary Ayurveda hospital for in patient management.[Table 2]. The child was managed with both internal medicines and external therapies including physiotherapy. Treatments such as Kashaya dhara (~pouring of herbal decoction), Udwartanam, Dhanyamla dhara and topical applications over both calf muscles, Yoga basti and Sneha basti along with Sarvanga abhyanga were adopted in the current case. Assessment of the patient was done both before and after the treatment.
| Follow-up and Outcome|| |
The patient was assessed through various clinical examinations. At the end of the treatment of three months, significant improvement was noted in his clinical features. The Barthel scale index assessment was done. After treatment, the score improved from 65 to 85. Vignos scale for functional assessment of lower extremity was done. Its grade improved considerably from five (walks unassisted but cannot rise from a chair or climb stairs) to two (walks and climbs stairs with aid of railing) after treatment. Brooke scale for upper extremity was also done, but it showed no considerable improvement after treatment and the grade remains the same.[Grade 2– Can raise arms above head only by flexing the elbow (shortening the circumference of the movement or using accessory muscles)]. The CPK values in the course of the disease were also noted. The CPK value improved from 27,213 U/L (12/11/2019) to 13,112 U/L (24/03/2021). Observations infer the scope of Ayurvedic intervention in managing LGMD and thereby improving the functional status and quality of life of the patient. No adverse reactions were noticed during the treatment.
| Discussion|| |
The patient had visited the hospital as a diagnosed case of LGMD. In Ayurveda, this condition cannot be correlated directly to a particular disease. Even though it is impossible to cure a genetic deformity, Ayurveda approach can improve patient's quality of life by analyzing the Doshas and Dhatus involved in the disease. In Samprapti (~pathogenesis) mainly Vata and Kapha are involved. The functions of Vyana vata (~a subtype of Vata) like Gati (~movement) and that of Udana vayu (~one of the five subtypes of Vata) seem deranged. Beeja dushti itself leads to Vata prakopa and later affects Dhatu parinama process. Agni (~digestive/metabolic factors) is the main factor responsible for the proper transformation of the Dhatus. In this condition, Dhatwagni mandya is present primarily at the level of Mamsa dhatu. Simultaneously, there will be Srotorodha (~obstructive pathology occurring in channels) due to the formation of Amavastha in the Dhatu and Kapha dosha vridhi. This Srotorodha again leads to Vata dosha vitiation, which finally results in the depletion of Mamsa dhatu. As the correction of Agni is much important in this case, the treatment started with Deepana (~appetizers) Pachana (~digestive), and Anulomana medicines such as Shaddharana tablet, Gandharvahastadi Kashaya, Ashta churna, and Dantyarishtam. Initially, Kashaya dhara was done over full body with Cheriya rasnadi kashaya. The drugs in this Kashaya are basically Vatahara in nature and the process cause fomentation of the body also. The treatment Udwartana (~massage with medicated powder) was influential in the removal of Srotorodha and to bring Sthirikarana (~firmness) to the body parts. Udwartana was done with Kolakulathadi churna. Abhyanga alleviates the Vata dosha and provides strength for the muscles. For initial, Abhyanga during outpatient management, Karpasasthayadi taila was selected as it can reduce Vata and can prevent further Dhatu kshaya (~diminution of body tissue elements). During inpatient management, the Karpooradi taila was used to maintain respiratory health along with its Vatahara properties. The most important part of the treatment was Basti, which help in the condition of vitiated Tridoshas (~three regulatory functional factors of the body). Mustadi rajayapana basti was given as it is Sadyobalajanana (~instantaneously promotes strength) and Rasayana (~rejuvenative). The Mustadi rajayapana basti yoga (total quantity 350 ml) was prepared out of 7 g of Saindhava, 14 g of Kalka dravya (Satapushpadi kalka), 70 g of honey, 70 ml of Sneha dravya (Sahacaradi mezhukupakam), 168 ml of Mustadi ksheera kashaya, and 20 ml of Mamsa rasa. The drugs in Basti yoga have Agni deepana property and will be effective in Dhatwagni mandya. Pippalyadi anuvasana was also very useful, as it is effective in the Dourbalya (~weakness) of the Uru (~thigh), Kati (~back or dorsum) region. For Matra basti, Sahacaradi mezhuku pakam was used to prevent wasting of muscles and it is effective in disorders of Apaanavata, which is very difficult to manage. Lepa was done with Naagaradi churna over the bilateral calf to reduce the pseudo hypertrophy of the calf muscles to reduce Kapha avarana. After the Lepa, the calf muscles loosened and girth reduced to 29.5 cm from 31 cm. Saraswatharishtam was included in the internal medicines as it can improve Bala (~immunity) and Ojus (~essence of all seven Dhatus). Both the external and internal medications brought significant improvement in the condition of the patient.
| Conclusion|| |
In the case of LGMD, no absolute cure is available in none of the medical systems. Clinically significant improvement in the eight year old boy having LGMD with a three month course of Ayurvedic management (including out-patient and in-patient management) gives a ray of hope for further research in this field. Follow-up of the case is needed for further evaluation.
Declaration of patient consent
Authors certify that they have obtained patient consent form, where the caregiver has given his consent for reporting the case along with the images and other clinical information in the journal. The caregiver understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.
The authors are grateful to the Head of the department Dr. Anil Kumar M V, all teaching staff, Postgraduate scholars, house surgeons, nursing staff and Panchakarma therapists of Govt. Ayurveda College hospital for women and children, Poojappura, Thiruvananthapuram, Kerala, for their support in the management of the case.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Table 1], [Table 2]