Introduction
Mutations in the DMD gene, located at Xp21.1, cause DMD, a severe X-linked recessive illness.[1] In this instance, there is no dystrophin protein. This prevalent genetic neuromuscular illness affects around one in every 3,500 live male newborns.[2] Progressive weakness, calf muscle pseudoh-ypertrophy, contractures, scoliosis, cardiomyopathy, mental impairment, and respiratory failure are all hallmarks of DMD. The symptoms worsen with time and often manifest between the ages of three and five.[3] The diagnosis is based on clinical presentation, genetic testing, and elevated creatine phosphokinase (CPK) values, which often exceed hundreds of IU/L.[4] Despite advances in modern medicine, there is currently no authorized therapy for DMD. In order to slow the condition's development, current treatment options include corticosteroids, physical therapy, orthopedic procedures, and assisted breathing. However, these therapies can have serious long-term side effects.[5,6] Ayurveda is another method that might provide further therapy options. Ayurvedic principles state that DMD is associated with Bheejabagahaavyava Dusti and Dhatukshayaj Vata, which causes Mamsa and Medo Dhatu to degenerate.[6,8] In this case report, a 3.5-year-old child with DMD saw a notable clinical improvement as a consequence of Shamana Aushadha and Panchakarma treatment.
Case Report
A male child, 3 years and 6 months old, was brought to the Kaumarbhritya OPD at IASR on 08/02/2023 with complaints that, over the previous year, his mother claimed he had increasingly experienced difficulties mounting stairs. Up to the age of two and a half, the youngster had no serious concerns. The mother then noticed that he was progressive decline in activity.
On examination and after reviewing the case history in detail, clinical suspicion of Duchenne Muscular Dystrophy (DMD) was raised. The parents had previously visited a private hospital, where investigations including serum CPK were carried out. Elevated levels were found, and on 31-01-2023, a working diagnosis of DMD was suggested. A hemizygous deletion affecting exons 8 to 43 in the DMD gene was later validated by genetic testing (MLPA) conducted at PGI, Chandigarh (report dated 10/02/2023). The child had been on allopathic treatment for 1.5 months and again came to us for Ayurvedic management.
The child, second-born of a non-consanguineous marriage, was delivered full-term via normal vaginal delivery with an immediate cry and a birth weight of 2.8 kg. His antenatal, perinatal, and postnatal history was unremarkable, with complete immunization and normal diet, appetite, sleep, and excretory functions.
Developmental milestones showed mild gross motor delay, with difficulty in climbing stairs and running from early childhood, while other milestones were age-appropriate. Clinical examination revealed bilateral calf muscle hypertrophy, positive Gower’s sign, and reduced lower limb strength (4/5), with normal reflexes and sensory functions. Ayurvedic Panchakarma and Shamana Aushadha were considered to manage symptoms and enhance the quality of life.
Therapeutic Intervention
The treatment included four inpatient (IPD) stays at IASR Hospital, where the patient received Panchakarma therapies along with oral medications. Follow-ups were scheduled to monitor improvements in motor function and biochemical parameters. By the follow-ups, the parents reported an improvement in the child's ability to move his legs and climb stairs; the child's physical growth and development showed further progress, and a CKMB test was advised.
Table 1: Timeline of treatment
| OPD | DOA | DOD | Panchakarma Therapies | Medication Name | Dose | Frequency |
|---|
| 08/02/2023 | | | Ksheerabala Taila Nasya | Vidangarishta | 5 ml | TDS |
| Bilvaadi Gutika | 125 mg | TDS |
| Vasakasava | 5 ml | BD |
| 15/03/2023 | | | | Vidangarishta | 5 ml | TDS |
| Bilvaadi Gutika | 125 mg | TDS |
| Indukant Kashaya | 10 ml | BD |
| - | 29/03/2023 | 20/04/2023 | Snehana, Swedana, Shashti Shali Pinda Sweda | Ashwagandhaaristha | 10 ml | BD |
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