Original article / research

Year : 2024 | Month : May | Volume : 18 | Issue : 5 | Page : SE01 - SE05

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Ayurvedic Management of Duchenne Muscular Dystrophy in Children: A Narrative Review

Published: May 1, 2024 | DOI: https://doi.org/10.7860/JCDR/2024/67780.19412

Shruti Prakash Kapatkar, Renu B Rathi, Swecha Choudhary

1. Postgraduate Scholar, Department of Kaumarbhritya, Mahatma Gandhi Ayurved College, Hospital and Research Centre, Salod, Wardha, Maharashtra, India. 2. Professor and Head, Department of Kaumarbhritya, Mahatma Gandhi Ayurved College, Hospital and Research Centre, Salod, Wardha, Maharashtra, India. 3. Postgraduate Scholar, Datta Meghe Institute of Medical Sciences, Wardha, Maharashtra, India.

Correspondence Address :
Dr. Shruti Prakash Kapatkar,
Postgraduate Scholar, Department of Kaumarbhritya, Mahatma Gandhi Ayurved College, Hospital and Research Centre, Salod, Wardha-442001, Maharashtra, India.
E-mail: shrutikapatkar50@gmail.com

Abstract

Duchenne Muscular Dystrophy (DMD) is the most common primary myopathy of children. There are many muscular diseases in children which are inherited through generations. All those are known as congenital myopathy. This disease is an X-linked recessive disorder produced by the abnormality of the gene Xp21. It is a severe condition that poses a life-threatening risk and significantly reduces a patient’s lifespan. It is characterised by progressive symmetrical muscular weakness, with proximal muscles being more affected than distal ones. Additionally, individuals with DMD often exhibit pseudohypertrophy of the calf muscles. The compilation of data from classical Ayurvedic texts contributes to a holistic understanding of potential interventions, aiming to improve patient quality of life and prevent contractures. The study is crucial in bridging traditional and contemporary healthcare practices, offering valuable insights for clinicians and the wider medical community in addressing the multifaceted challenges posed by DMD. This research underscores the need for an integrative and comprehensive approach to enhance therapeutic strategies for this prevalent X-linked recessive disorder. In pursuit of this objective, concerted efforts have been directed towards raising awareness among both the general public and the medical community. Furthermore, the review delves into the exploration of various Panchakarma treatments, a traditional therapeutic approach rooted in Ayurveda. By consolidating and synthesising data derived from classical Ayurvedic texts pertaining to DMD, this review seeks to provide a holistic understanding of potential interventions. The goal is to contribute to the advancement of therapeutic strategies that can ameliorate the impact of DMD on patients’ lives, fostering a more comprehensive and integrated approach to managing this challenging condition.

Keywords

Adibala-pravrutta vyadhi, Chromosomal disorder, Congenital myopathy, Dystrophin, Maamsadhatu shosha, Muscular diseases

Introduction

Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease that affects children. It is a distinctive and highly prevalent childhood muscular dystrophy; it represents one of the most widespread and serious conditions within this category (1). It is an unusual inherited musculoskeletal condition that manifests clinically as gradual muscular weakness because the muscle lacks the protein dystrophin, which eventually takes the role of fibrosis and fat accumulation.

The disease was given that name in 1860 in honour of a French neurologist named Guillaume Benjamin Amand Duchenne (2),(3),(4),(5). DMD is a genetic disorder affecting boys due to mutations in the dystrophin gene on the X chromosome, with an incidence of 1 in 3,600 live-born infant boys (6). Early symptoms are having trouble in climbing stairs. The person puts his hands on the next step to help raise himself up and leans against a wall or railing for support. This is followed by a waddling gait with compensatory lumbar lordosis. Beginning at age 10, it is the most prevalent and severe type of muscular dystrophy (7).

Boys between the ages of 3 and 5 are affected and exhibit proximal muscular weakness and calf enlargement (8). DMD features are distinct and have a relatively high rate of transmutation. Other clinical characteristics include loss of muscle coordination, the onset of contractures, the progression of scoliosis, reduced walking, cardiomyopathy, poor lung function, and confusion. The history and typical clinical findings are the primary basis of the diagnosis. Characteristics in addition to creatinine phosphokinase, which rises from a normal range of less than 500 IU/L to thousands (9).

In Ayurveda, DMD is not directly associated with any specific disease entity. Instead, its development is explained through the concept of Adibalapravritta Vyadhi (inherited diseases), Shukra-shonita Dosha (10) (gametes), Bijabhagavayay Dushtijanya (11) Vyadhi (genetic disorder), and takes Sthanasamshraya (10) (situated) primarily in Mamsa Dhatu (muscle tissue), vitiation of Vata leads to Mamsa- dhatvagni and Medodhatvagni (11). Impairment, which results in the buildup of aberrant tissue called Meda Dhatu (adipose tissue) in place of Mamsa Dhatu and the formation of dysfunctional Mamsa Dhatu. This impaired Mamsa Dhatu is unable to carry out Mamsa Dhatu’s Prakrita Karma that is Sharira Pushti, Meda Dhatu Pushti, and shows symptoms of Mamsa Dhatu Kshaya (decreased muscle tissue) Gatranam Sadanam (paresthesia), Dhamni Shaithilya (loose and flabby arteries), Aksha Glani (debility of the sense organs), Sandhi Vedana (pain in the joints), Sphik Griva Shushyata (muscle wasting in hip and cervical region) (10).

The incorrect synthesis of Progressive tissues Uttarottara Dhatu (follow-up progressive tissues) (12) is brought on by dysfunctional Dhatwagni (metabolic enzymes). Additionally, this causes the production of Ama (undigested metabolic product), Sanga Srotodushti, and Vimarga Gamana of Vata. As a result, Mamsa Dhatu is depleted, and the damaged muscle fibres gradually deteriorate and die. DMD may fall under the Paurasadini Jaataharini category (where the diseased child passes away before the age of 16) (13) depending on how it manifests itself. In the current medical system, steroids are recommended because there is no lasting treatment for this illness. Due to their rapidly deteriorating heart muscles these patients have a relatively short lifespan (14). Ayurveda and other conventional pathies have proven the treatment for curing the disease till date (15). Hence, to enhance the quality of life of DMD patients and for prevention of contractures of muscles i.e., early detoriation can be prevented by Panchakarma protocol, yoga, physiotherapy, occupational therapy along with vasa therapy (ball exercise), and Pathya-Apathya. This article is aimed at increasing awareness among people and doctor community regarding treatment of DMD using various therapies to improve both quality of life of patient and reduce the likelihood of complications that could be fatal.

Types of Muscular Dystrophy

According to Ayurveda this disease comes under Adhibala Pravrutta Vyadhi (inheritance disease) which occurs by Bheeja Bagahaavyava Dusti (chromosomal disability), which causes Vata Prakopa, takes Sthana Samshraya (situated) in Mamsa, and the Medo Dhatu vitiates and depletes them. There are various types of Muscular Dystrophies- Detailed description of types of DMD is explained in (Table/Fig 1) (16).

In Ayurveda, DMD is not directly associated with any specific disease entity. Instead, its development is explained through the concept of Adibalapravritta Vyadhi. This perspective attributes the condition to Beejadusti (genetic factors) and Aatma Karma (individual actions), leading to an imbalance in Mamsavahastrotas (muscular tissue channels) and impairment of Dhatvagni (tissue metabolism). DMD is viewed as an imbalance of Vatadosha (biological air element), Saptadhatu (seven bodily tissues crucial for formation of functional and structural components up to tissue metabolism levels), and Ojas (vital essence), considering its progressive degeneration and systemic involvement. The primary manifestation is Chestahani (decreased mobility), indicating a decline in Chalaguna (biological mobility factor). Recent advancements in both supportive and medical fields are focused on addressing multi-systemic complications, thereby enhancing quality of life, and extending life expectancy for those with DMD as depicted in (Table/Fig 2) (17).

Nidan Panchaka of DMD According to Ayurveda

In the context of disease analysis, Nidan Panchaka entails five essential components. Firstly, “Hetu” identifies the cause or root factor contributing to the disease. Secondly, “Purvarupa” highlights the early symptoms or indicators that precede the full manifestation of the illness. Thirdly, “Rupa” describes the characteristic features and presentation of the disease, aiding in its recognition and diagnosis. Fourthly, “Upshaya” refers to relieving factors, guiding therapeutic strategies. Lastly, “Samprapti” elucidates the progression and course of the disease, including its natural history and potential complications. Together, these components form a comprehensive framework for understanding, diagnosing, and managing diseases in clinical practice. Hence, these five components are described as follows:

Nidan/Hetu (causative factors): The pathological condition manifests as a partial vitiation observed either in Shukra, the reproductive tissue, or Shonita, the blood component, within the physiological framework. This aberration is further characterised by a specific defect in the Beejabhag or Beejabhagavaya, indicative of a chromosomal abnormality specifically localised on the Xp21 chromosome. Moreover, the intricacies of this defect extend into the Matruj Bhava, underscoring the involvement of maternal factors, as the genesis of Mamsa, the muscular tissue, is intricately linked with these maternal influences (18),(19).

Purvarupa: The identification of a developing movement deficit in a child’s developmental trajectory serves as a key indicator of the vitiation of Vata, a fundamental concept in Ayurveda highlighting the imbalance in the bodily Vata Dosha and Kapha elements. Furthermore, the compromise in metabolic functions is intricately linked to Pitta Dushti, denoting an imbalance in the Agni and Jala elements within the physiological framework. In a parallel context, the erosion of the quality characterised by “Sthiratva,” emphasising stability and steadfastness, is a consequential outcome attributed to the influence of Kapha Dushti, underscoring an imbalance in the Pruthvi and Jala elements in the body (20).

Roop (characteristic features): “Rupa” includes the characteristic features and presentation of the disease (signs and symptoms) and diagnosis.

Signs and symptoms of DMD: According to modern science (8), the first signs of DMD usually show between the ages of 3 and 5.

Associated symptoms- e.g., cardiomyopathy and minor mental retardation or learning difficulties are found in nearly all cases, albeit to varying degrees of severity, and are not always related to the severity of muscular disease.

Investigations Required for the Diagnosis of DMD (21)

a) Genetic tests: Examining a blood sample for the faulty gene associated (X-gene) with DMD.

b) Blood tests: Creatine phosphokinase (CPK) spills into the blood from weak or injured muscles.

c) Muscle biopsy: A biopsy is a process to remove a microscopic sample of muscle for examination. Only when the initial genetic test yields a negative result is a biopsy necessary. In roughly 30 percent of cases, this happens. Typically, the thigh muscle is used to collect the sample (quadriceps).

d) Electromyography (EMG): For a reliable diagnosis of motor neuron disease, an EMG is a necessary examination. It can show the extensive denervation and fasciculations that are needed. Considered as an extension of the clinical evaluation, EMG records electrical activity in muscle. It can distinguish between neurogenic and myopathic muscular weakness and atrophy. In clinically normal muscle, it can find anomalies such as persistent denervation or fasciculations. It can distinguish between localised nerve, plexus, or radicular pathology by looking at the distribution of neurogenic abnormalities. It can also offer evidence in favour of the pathophysiology of peripheral neuropathy, such as axonal degeneration or demyelination.

Upashaya (relieving factors): Temporary relief occurs due to Panchakarma procedures including Shaman Chikitsa, also helps to increase quality of life without using steroidal formulation (22).

Samprapti of the disease: “Samprapti” elucidates the progression and course of the disease, including its natural history and potential complications as described below in (Table/Fig 3).

Samprapti Ghatak (Aetiopathogenesis)

Ayurvedic management of DMD: DMD, as mentioned in (Table/Fig 4), viewed through the lens of Ayurveda, involves a disruption in the equilibrium of Tridosha, impacting vital bodily tissues such as Rasa, Rakta, and Mamsa dhatu (17),(23),(24),(25),(26),(27),(28),(29),(30). The disturbance extends to Agni, encompassing Jatharagni, Rakta, and Mamsa Dhatvagni, signifying an imbalance in metabolic processes. Identified within the Adhishthan of Mamsa or muscle tissue, the condition is recognised for its complexity. Acharyas classified as Asadhya, DMD poses inherent challenges in treatment; however, its potential for betterment, labelled as Yapya, is acknowledged through proactive measures such as early detection and meticulous management, aligning with Ayurvedic principles of holistic well-being (31).

The therapeutic interventions for DMD, aimed at disrupting its aetiological progression, are comprehensively detailed in (Table/Fig 5) (32). This table elucidates treatment modalities based on the Ayurvedic principles of Guna (quality), Karma (action), and efficacy, providing a nuanced understanding of interventions effective in addressing the complexities of DMD.

The numerous Shamana Chikitsa formulations and their effectiveness in DMD are presented in (Table/Fig 6) [33-36]. These medications not only play a crucial role in alleviating symptoms but also contribute significantly to the strengthening of muscles. Complemented by Rasayan therapies, these formulations collectively represent a comprehensive approach in the therapeutic management of the disease, aiming to enhance overall well-being and mitigate the impact of DMD on muscle health.

In conjunction with the treatment modalities, (Table/Fig 7) these provide a detailed exposition of the inclusion of Yogasana, physiotherapy (traction), and occupational therapy (braces). These integrative therapies prove highly efficient in augmenting muscle strength. Additionally, the incorporation of Pranayama, a key component, not only regulates breathing patterns but also extends lifespan. Pranayama imparts a soothing effect to the body, fosters mental calmness, and cultivates a positive outlook, contributing holistically to the well-being of individuals affected by DMD (37).

Acharya Kashyapa in Ayurveda regards diet as the (Mahabheshaja) supreme medicine, emphasising that adherence to prescribed dietary guidelines, known as Pathya, is essential for health. Maintaining balance in Sapta-dhatu and tri-dosha through proper nutrition influences various aspects of well-being, including voice, lifespan, happiness, strength, development, intellect, and complexion. Aahara Kalpana underscores the crucial role of nutrition in preserving health and treating diseases by considering its impact on Dosh, Dhatu, Mala, and Agni (38). This pivotal insight is detailed in (Table/Fig 8), elucidating the principles of Pathya (beneficial) and Apathya (to be avoided). Adhering to these dietary guidelines becomes paramount in ensuring optimal health outcomes for individuals, particularly children, grappling with DMD (15).

Discussion

The DMD is an inherited X chromosome–linked recessive myopathy for which no cure exists (39). The greatest possible outcome for treating genetic abnormalities is to keep the patient comfortable and functional (40). The primary pharmacological palliative treatment for DMD up to this point has been corticosteroids, but these medications have a long list of side effects. There is a need for an alternative therapy that may prevent the growth of this illness without causing any negative effects (41). When describing the Dhatupaka Avastha, Acharyas emphasise the significance of Agni, who is wholly and solely responsible for the development of the following Dhatus. Therefore, Deepana and Pachana Dravya administration should be used to rectify the Agni in order to strengthen the process. Doshas must also be balanced, and Panchakarma should be used to remove metabolic poisons from the Dhatus (42). The concept of “Brhmanyastu Mrudu Langyet,” which refers to the use of Rukshana for better Brihmana treatment modalities, is present in the preoperative process mentioned by Acharyas. There are various Shodhana treatment modalities for beneficiaries of patient, like Udvartana, which performs Sthiri Karana on Angas and aids in the eradication of Srotorodha. Additionally explained as a form of Rukshana are Pachana medications (43).

Due to the Kapha-vatahar action, Sarvanga dhara by Kwath promotes muscle strength while also reducing rigidity. Pinda Swedana is effective for ailments related to wasting. Additionally, Pindasweda was goal-oriented in a few trials. Because it simultaneously uses the Vatahar mechanism’s pre-procedure Abhyanga, Swedan, and Lepan with nutrition, as with Parishekha and Dhanyamla, Chikitsa is essential in the first deepana treatment of DMD (44). Upanah is helpful in the reduction of spasticity and contractures due to its Ushna, Teekshna Kapha-vatahar action (45). Since cardiomyopathy is a specific sign of muscular dystrophy, a neuromuscular assessment is required in this instance. It might not show any symptoms till the very end of the disease. Boys affected by DMD experience a progressive weakening of muscles, resulting in the eventual inability to walk. This condition also contributes to the development of scoliosis, respiratory decline, and compromised cardiac function. Scoliosis is a problem that often arises when ambulation is lost and should be periodically radiologically examined (46).

Last but not least, according to Acharya Kashyapa, food is essential for preserving health, as it is said to be Mahabheshaja in children (38). Pathya and Apathya explained in (Table/Fig 8) should be followed. Counselling (Satvavajay Chikitsa) should be provided to the patient’s parents in order to ensure their well-being and provide them with life support.

Conclusion

Since DMD is a genetic ailment, there is currently no permanent treatment for it; instead, doctors aim to extend the patient’s life and enhance their quality of life. In order to improve patient quality of life and prevent contractures of the body, which make life worse, efforts have been made to inform the public and the medical community about the treatment options. Many Ayurveda Panchakarma modalities, including Shodhana and Shaman Chikitsa, as well as occupational therapies like traction, braces, and skill development, as well as physiotherapy, Yogasana, and Pranayama, will help to stop detoriation muscles of the heart and body, and last is diet that includes Pathya and Apathya, i.e., which diet should or should not be followed.

Acknowledgement

The authors would like to acknowledge and give their warmest thanks to their Head of the Department, Dr. Renu B Rathi who made this work possible. Her guidance and advice carried the authors through all the stages of writing the article. They also express their gratitude to Dr. Swecha Choudhary, for her support in completing the article.

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DOI and Others

DOI: 10.7860/JCDR/2024/67780.19412

Date of Submission: Sep 30, 2023
Date of Peer Review: Dec 21, 2023
Date of Acceptance: Feb 23, 2024
Date of Publishing: May 01, 2024

AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? No
• For any images presented appropriate consent has been obtained from the subjects. No

PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Sep 30, 2023
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• iThenticate Software: Feb 21, 2024 (9%)

ETYMOLOGY: Author Origin

EMENDATIONS: 8

Tables and Figures

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