Volume 27, Issue 132, February 2023

Delayed onset of Duchenne muscular dystrophy in a case of 22-year male with normal developmental milestone

Sameer Dhabalia^1♦, Shivani Malpani², Sandeep Shrivastav³

¹MBBS Intern, Department of Orthopaedic, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India
²MBBS Intern, Department of Orthopaedic, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India
³Professor, Department of Orthopaedic, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India

^♦Corresponding author
MBBS Intern, Department of Orthopaedic, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (Deemed to be University), Wardha, Maharashtra, India
ORCID: 0000-0001-5761-9208

ABSTRACT

Duchenne muscular dystrophy (DMD) presents more commonly in males which is inherited as an X linked recessive trait. It is very uncommon to see DMD in females. It occurs when there is mutation in a dystrophin gene present on X chromosome. The common time of appearance of clinical feature of this disease is in early childhood. These patients are normal at the time of birth but by the time patient is one year of age they present with delay in attaining developmental milestones. They clinically present with frequent history of falls, difficulty to raise themself from ground this is because of weakness in proximal group of muscle. On examination calf hypertrophy, deltoid hypertrophy is a very common finding. This patient dies before the age of 30. The cause of premature death in these cases is commonly due to cardiomyopathy. This case report of male aged 22-years, who clinically started developing the symptoms of DMD when he reached 14 years of age, is a very uncommon finding. The main highlight of this case is normal development at the time of childhood. Patient had presented with weakness in bilateral lower limb which progressed to weakness in bilateral upper limbs also. Currently he is wheelchair bound. Patient currently has fewer episodes of breathlessness. On examination levoscoliosis and foot deformity that is equinovarus was seen. At this point the main aim is to enhance the wellbeing of the patient, henceforth management is symptomatic treatment and by providing physiotherapy for the purpose of muscle strengthening to improve the muscle power and tone.

Keywords: Duchenne muscular dystrophy, levoscoliosis, Developmental delay, Weakness in limbs, equinovarus, muscle biopsy

Medical Science, 2023, 27, e86ms2822

PDF

DOI: https://doi.org/10.54905/disssi/v27i132/e86ms2822

Published: 11 February 2023