# Duchenne Muscular Dystrophy Management

> Corticosteroid therapy, exon-skipping drugs and cardiac-respiratory surveillance in NEET-SS Paediatric Neurology.

- Canonical URL: https://prepelephant.com/topics/neet-ss/paediatric-neurology/dmd-management
- Exam / course: NEET-SS · Subject: Paediatric Neurology
- Publisher: PrepElephant (https://prepelephant.com) — Prepared and reviewed by the PrepElephant Academic Review Team
- First published: 2026-10-02
- Last updated: 2026-10-02
- How to cite: "Duchenne Muscular Dystrophy Management", PrepElephant, https://prepelephant.com/topics/neet-ss/paediatric-neurology/dmd-management

## Direct answer

Corticosteroids are the standard of care in Duchenne muscular dystrophy: prednisolone 0.75 mg/kg per day or deflazacort 0.9 mg/kg per day, started once function plateaus — usually around four to six years — prolong independent ambulation by two to three years, delay scoliosis and preserve respiratory function. Management is surveillance on a fixed calendar: echo and ECG for cardiomyopathy from diagnosis, spirometry once ambulation is lost, bone health for steroid osteoporosis, and genetic confirmation naming the mutation — because mutation-specific therapy, exon-skipping agents for amenable deletions and ataluren for nonsense mutations, is part of the landscape even where Indian access is cost-constrained.

## What you must remember

- Clinical anchors: X-linked recessive, onset of gait abnormality at two to five years, Gowers sign, calf pseudohypertrophy, waddling gait and a positive toe-walking habit; creatine kinase typically 10,000 to over 50,000 U/L.
- Genetics: frameshift deletions, duplications or point mutations of the DMD gene abolish dystrophin; multiplex PCR and MLPA detect deletions in about two thirds of cases, with sequencing resolving most of the rest — and the reading-frame rule separating Duchenne from the milder Becker phenotype.
- Steroid benefit beyond walking: preserved respiratory function, delayed scoliosis, reduced cardiac dysfunction — daily dosing in Indian practice usually means prednisolone, with deflazacort where its profile suits.
- Steroid adverse effects: weight gain, growth attenuation, behavioural change, cataract with deflazacort, glucose intolerance and osteoporosis — monitor weight, height, blood pressure, vision and bone health.
- Cardiac: cardiomyopathy is near-universal over time; ACE inhibitors or ARNI start early on echo evidence, with surveillance at least every one to two years — female carriers need it too.
- Respiratory: forced vital capacity declines after loss of ambulation; cough assist, non-invasive ventilation for nocturnal hypoventilation and vigilant infection management determine survival into the third decade and beyond.
- Newer therapy map: exon 51 skipping with eteplirsen and golodirsen or viltolarsen for exon 53, casimersen for exon 45; ataluren for nonsense mutations in Europe; gene-transfer trials ongoing — all mutation-stratified, hence the importance of complete gene analysis.
- Standards of care demand multidisciplinary review — neurology, cardiology, respiratory, orthopaedics, endocrine, genetics, rehabilitation — around a functional assessment such as North Star.

## The surveillance calendar

Build the follow-up as a calendar, because that is how the exam and the clinic both run it. At diagnosis, around four to five years: confirm the mutation in writing with exon boundaries, since it gates every future therapy; baseline echo, ECG and a functional measure such as time to stand from the floor; teach the family the natural history so the coming years are a plan, not a series of shocks. Age four to six, as function plateaus: start the steroid with the dietitian and physiotherapist engaged from day one — weight control preserves the therapeutic window; begin calcium and vitamin D. Every visit: growth, blood pressure, weight trajectory, functional timing, and a Gowers video so progression is documented objectively. Every one to two years: echo and ECG, with low threshold for ACE inhibition when dysfunction appears — evidence supports early treatment before symptoms. Around loss of ambulation, typically the early teens: switch to respiratory surveillance — six-monthly spirometry, cough assessment, sleep studies for morning headaches, non-invasive ventilation for nocturnal hypoventilation — with scoliosis screening while surgery is still possible. Bone: vitamin D, bisphosphonates for vertebral fractures after steroid exposure. Late adolescence: transition to adult services, with carrier testing for sisters and genetic counselling — a recurring NEET-SS theme.

## How the exam frames it

Three stem formats dominate. First, the steroid question: a boy of five with plateauing function — "best next step" is corticosteroid initiation, not physiotherapy alone or waiting for loss of ambulation. Second, the CK-versus-biopsy sequencing: the boy with a classic phenotype and massive CK gets MLPA-based deletion testing on blood, with biopsy only if negative — ordering a biopsy first is the planted error. Third, the system-complication item: the teenager with palpitations or breathlessness who needs the cardiac answer — early ACE inhibitor with echo follow-up; or the morning headache with low vital capacity — nocturnal hypoventilation needing non-invasive ventilation. The sister question — why test the mother and sisters — closes the loop on carrier risk and genetic counselling.

## Frequently asked questions

### What dose of prednisolone is standard in Duchenne?

0.75 mg/kg per day, or deflazacort 0.9 mg/kg per day, started when motor function plateaus, usually at four to six years.

### Why is the exact DMD mutation required?

Because exon-skipping and nonsense-suppression therapies are mutation-specific, applicable only to deletions amenable to particular exons or to stop-codon disease.

### Which cardiac intervention is started early?

An ACE inhibitor or ARNI once echo shows dysfunction, with echo and ECG surveillance from diagnosis — lifelong, and for carriers too.

### What respiratory support is instituted after loss of ambulation?

Regular spirometry with cough assistance, and non-invasive ventilation for nocturnal hypoventilation detected on sleep studies.

### What are the main steroid adverse effects to monitor?

Weight gain, growth attenuation, behavioural change, cataract with deflazacort, glucose intolerance and osteoporosis, with fracture-prevention vitamin D and calcium.