The presentation varies according to the age. The milestones related to mobility like walking, crawling and climbing steps are all delayed compared to a typical toddler.

Large and bulky calf muscles are seen in toddlers. Parents should notice that it is a false hypertrophy and is an alarming sign. Pseudo hypertrophy is seen due to abnormality of the calf muscle. A study found that children with Duchenne muscular dystrophy did not start walking till the age of 18 months or beyond. In a study conducted by Dubowitz and colleagues, 74% children manifested symptoms of Duchenne muscular dystrophy by 4 years of age. By the age of 5, awareness about the condition increased as difficulties were experiences in multiple school-related activities like climbing stairs, getting into the bus, etc [1].

During preschool, parents often complain that the child falls repeatedly while making attempts to walk. This is due to lack of strength in muscles. Children tend to seem lazy, clumsy and will avoid climbing stairs. Toe walking is a compensatory feature noticed in affected children as there is weakness of the calf muscles.

Psychometric analyses of children with Duchenne muscular dystrophy has shown that despite adequate and equalized educational opportunities, the average Intelligent Quotient (IQ) is about 85 points in contrast to the 105 points of healthy populations as identified with the help of Weschsler Adult Intelligence Scale (WAIS) [5] [6] [7].

As the child starts growing, muscle weakness is noticed in the pelvic muscles and the shoulders more prominently than the rest of the muscles. Children often need assistance while raising their hands. High energy movements like jumping and hoping are an extremely difficult task for the child. Generally, proximal muscle weakness is noticed earlier followed by distal muscle weakness. There is pseudohypertrophy of tongue (macroglossia in 30% cases) and calf muscles (60% cases). The muscle is replaced by fat and connective tissue leading to the enlarged appearance with no capability for movements. Lastly, the child may develop deformities like scoliosis.

An important sign to look out for is the Gower’s sign which is the typical fashion in which a child with Duchenne muscular dystrophy rises from a seated position on the ground. First, the body weight is shifted on the hands and the knees, followed by raising the hips up against gravity and then finally standing up. There are contractures of the various tendons of the body visible in later years. Children often get relegated to a wheel chair by the age of 12 years; initially to avoid exertion but later it becomes a necessity for movement.

• Weakness

  Muscle weakness grade varied as follows: patient 1 showed asymmetrical bilateral proximal upper and lower extremities weakness, patient 2 showed asymmetrical bilateral upper extremities weakness similar to scapulohumoral muscular dystrophy, and patient [ncbi.nlm.nih.gov]

  Occasionally, however, females who carry a DMD gene mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. [ghr.nlm.nih.gov]

• Falling

  Early signs include delay in walking, frequent falling, and difficulty getting up from a sitting or lying position. Muscle deterioration continues to progress and, around the time they are 12 years of age, children with DMD become unable to walk. [web.archive.org]

  Four of the five deteriorated rapidly and died within 36 h after falling. X-rays for fractures were negative. Four of the five patients were taking corticosteroids daily. All five patients fulfilled the clinical criteria for Fat Embolism Syndrome. [ncbi.nlm.nih.gov]

  […] in toddlers, enlarged calf muscles may be apparent at about three to six years of age, they may appear to be clumsy in their movements, and start to have problems with climbing stairs, getting up from the floor, difficulty with running and frequent falls [novita.org.au]

• Developmental Delay

  Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. [ncbi.nlm.nih.gov]

  Assessment and diagnosis - general points [ 1 ] Awareness: consider DMD in any boy who is not walking by 18 months, who has delayed motor milestones or global developmental delay. [patient.info]

  Additional early signs and symptoms include: Developmental delay Muscle weakness Clumsiness Waddling gait Difficulty or inability to perform activities such as climbing stairs, running, and/or jumping Enlarged calf muscles Poor standing posture Learning [pfizer.com]

• Wheelchair Bound

  Children suffering from this disease eventually become wheelchair bound and die in their late teens. Paediatricians caring for the child with Duchenne Muscular Dystrophy in resource poor settings face a lot challenges. [ncbi.nlm.nih.gov]

  Patients become wheelchair bound and develop respiratory muscle weakness. As dystrophin is also important for heart muscle function, the heart can become weakened and develop arrhythmias due to the dystrophin mutation. [stanfordhealthcare.org]

  Progressive muscle weakness often causes Duchenne patients to become wheelchair bound before the age of 12. As the disease worsens, the weakening respiratory muscles lead to respiratory failure. [biomarin.com]

  The life expectancy was very low and many were wheelchair bound from an early age. [thetab.com]

  Wheelchair-bound children tend to have evidence of poor pulmonary function. Weakened respiratory muscles make coughing difficult, leading to increased risk of serious respiratory infection. A simple cold can quickly progress to pneumonia. [mda.org]

• Difficulty Climbing Stairs

  By 4 years of age, he had difficulty climbing stairs at home and the ladder at the neighborhood playground. His pelvic girdle muscles were weak, he walked with a rocking, side-to-side, waddling gait (Trendelenburg), and he developed lumbar lordosis. [pedsinreview.aappublications.org]

  Physical Exam Symptoms progressive weakness affecting proximal muscles first (begins with gluteal muscle weakness) gait abnormalities delayed walking toe walking clumsy, waddling gait difficulty climbing stairs, hopping, or jumping decreased motor skills [orthobullets.com]

  This muscle weakness causes a waddling gait and difficulty climbing stairs. Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body. [genome.gov]

• Mitral Valve Prolapse

  Dystrophic degeneration of papillary muscle and ventricular myocardium: a basis for mitral valve prolapse in Duchenne's muscular dystrophy. Circulation 62: 430-438, 1980. [PubMed: 7397983] Sato, B., Nishikida, K., Samuels, L. T., Tyler, F. H. [ncbi.nlm.nih.gov]

• Macroglossia

  This article describes the complex orthodontic treatment of a 22-year-old patient with Duchenne muscular dystrophy and macroglossia. [ncbi.nlm.nih.gov]

  There is pseudohypertrophy of tongue (macroglossia in 30% cases) and calf muscles (60% cases). The muscle is replaced by fat and connective tissue leading to the enlarged appearance with no capability for movements. [symptoma.com]

  […] absent deep tendon reflexes in the upper extremities and patella (though the tendo Achillis reflex remains intact even in the later stages of this disease), pain in the calves with activity ( 30% of patients), pseudohypertrophy of the calf (60%), and macroglossia [emedicine.medscape.com]

• Muscle Weakness

  Occasionally, however, females who carry a DMD gene mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. [ghr.nlm.nih.gov]

  Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent. [ncbi.nlm.nih.gov]

  English Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle Muscular dystrophy, Duchenne MUSCULAR [wikidata.org]

• Myopathy

  It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies. We describe a woman who presented with camptocormia in her eighth decade. [ncbi.nlm.nih.gov]

  Because of the infiltration of degenerating muscles with…Read More myopathy In myopathy …most common muscular dystrophy is Duchenne’s, an X-chromosome-linked disorder involving progressive destruction of muscle tissue that usually results in death before [britannica.com]

• Osteoporosis

  DMD is an X-linked recessive muscle disease with secondary osteoporosis and related frequently occurring fractures. To date, only bisphosphonates have been used to treat osteoporosis in DMD. [ncbi.nlm.nih.gov]

  This must be balanced against side-effects, including osteoporosis and vertebral fractures. Prednisolone is the usual treatment. There are recommended dose regimes [ 1 ]. [patient.info]

  Complications of corticosteroid therapy must be managed and include: weight management, H2 antagonists for gastric protection, regular monitoring and treatment of osteoporosis, and ophthalmic assessment for cataracts and glaucoma. [orpha.net]

• Muscle Contracture

  Physical therapy and bracing to prevent muscle contractures and orthopedic management of scoliosis are important components of the care plan. [aanem.org]

  Muscle contractures in the heels, legs. Muscle deformities. Respiratory disorders, including pneumonia and swallowing with food or fluid passing into the lungs (in late stages of the disease). [medlineplus.gov]

  Muscle contractures occur in the legs, making the muscles unusable because the muscle fibers shorten and fibrosis occurs in connective tissue. Occasionally, there can be pain in the calves. Symptoms usually appear in boys aged 1 to 6. [genome.gov]

• Vertebral Fractures

  We describe the case of a 20-year-old boy with DMD suffering from back pain due to multiple vertebral fractures who was treated with teriparatide. Improvement of bone density, pain, and quality of life was achieved. [ncbi.nlm.nih.gov]

  This must be balanced against side-effects, including osteoporosis and vertebral fractures. Prednisolone is the usual treatment. There are recommended dose regimes [ 1 ]. [patient.info]

  Extrapolating from the 10 boys who sustained a vertebral fracture, Kaplan‐Meier analysis predicted that 50% of treated boys would have a vertebral fracture by 53.5 months, and 75% by 100 months of treatment. [doi.org]

  Examples of know side effects are: Cushingoid features, weight game and growth inhibition, impaired fat and glucose metabolism, fluid retention and hypertension, osteroporosis with increased risk of vertebral fractures, and cataracts [12]. [physio-pedia.com]

  Vertebral Fractures in Duchenne Muscular Dystrophy Patients Managed With Deflazacort. J Pediatr Orthop. 2018 Jul. 38 (6):320-324. [Medline]. Buckner JL, Bowden SA, Mahan JD. Optimizing Bone Health in Duchenne Muscular Dystrophy. [emedicine.medscape.com]

• Gowers Sign

  She exhibited Gowers' sign, calf muscle hypertrophy, and a high serum creatine kinase level at 2 years. Her muscle pathology showed most of the fibers were negative for dystrophin immunohistochemical staining. She lost ambulation at 11 years. [ncbi.nlm.nih.gov]

  Common questions our doctors are asked What is Gower's sign? Gower's sign is an unusual way of standing up from the floor, where a child uses their upper limbs to compensate for weak lower limbs. [rch.org.au]

• Waddling Gait

  At age 4 he had a waddling gait and could no longer climb stairs. A physical examination revealed proximal muscle weakness, calf hypertrophy, deep tendon hyporflexia and a positive Gower's sign. [ncbi.nlm.nih.gov]

  Look for a waddling gait and Gowers' sign. This is more useful than formal examination in a young child. Remember that DMD is a devastating diagnosis - follow good practice for disclosing bad news. [patient.info]

  Additional early signs and symptoms include: Developmental delay Muscle weakness Clumsiness Waddling gait Difficulty or inability to perform activities such as climbing stairs, running, and/or jumping Enlarged calf muscles Poor standing posture Learning [pfizer.com]

  The condition progresses rapidly and the child develops a waddling gait and a positive Gower's sign. Climbing stairs becomes difficult and the child begins to fall frequently. [orpha.net]

• Clumsiness

  DMD typically appears between the ages of two with weakness in the pelvis and upper limbs, resulting in clumsiness, frequent falling, an unusual gait and general weakness. Some patients also have mild mental retardation. [medterms.com]

  Additional early signs and symptoms include: Developmental delay Muscle weakness Clumsiness Waddling gait Difficulty or inability to perform activities such as climbing stairs, running, and/or jumping Enlarged calf muscles Poor standing posture Learning [pfizer.com]

  They might also notice that their child falls over often, is clumsy and walks on their toes. [healthdirect.gov.au]

• Learning Difficulties

  difficulties Later, the arms, lower legs, and trunk become weak as well. [pfizer.com]

  difficulties, behavioural problems, or speech and language delay Test for creatine kinase levels if you suspect any neuromuscular condition. [bmj.com]

  Children with Duchenne MD may: run slowly have trouble going up steps fall often toe walk (walking on the toes or balls of the feet) Children with Duchenne MD also may have learning difficulties. [kidshealth.org]

  Symptoms may include: Fatigue Learning difficulties (the IQ can be below 75) Intellectual disability (possible, but does not get worse over time) Muscle weakness: Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other [medlineplus.gov]

• Absent Deep Tendon Reflex

  […] dystrophy • progressive motor weakness • no calf pseudohypertrophy • CPK levels are only mildly elevated Guillain-Barre syndrome • acute onset of weakness • absent deep tendon reflexes • CPK levels are normal Treatment Nonoperative corticosteroid therapy [orthobullets.com]

  Additional clinical findings in Duchenne muscular dystrophy Other clinical findings in Duchenne MD include absent deep tendon reflexes in the upper extremities and patella (though the tendo Achillis reflex remains intact even in the later stages of this [emedicine.medscape.com]

The following biochemical changes are noted in children to diagnose and monitor the condition. Creatinine phosphokinase (CPK) levels are always raised due to muscle breakdown. Other enzymes that might be elevated are serum transaminases, aldolase and lactate dehydrogenase (LDH). The polymerase chain reaction (PCR) technique might be employed to rapidly screen dystrophin gene deletions as it is 98% accurate and can be executed within less than 24 hours.

Electromyography reveals that the muscle weakness is due to destruction rather than damage to the nerve supplying the muscle. Ultrasound is rapidly replacing the electromyography due to its ease, convenience and accuracy. Muscle biopsy reveals absence of dystrophin protein in them and is confirmatory with the definitive histopathological changes. Genetic testing of the child along with the mother should be done to confirm the presence of deletion of the dystrophin gene. Electrocardiography shows strain on the right ventricle, deepened Q waves, inversion of T waves and peaked R waves [8].

Diagnosis can be confirmed by genetic testing only. Recent advances have made it possible to detect the genetic mutation in a pre-natal checkup itself.

• Abnormal ECG

  Decreased myocardial nNOS, increased iNOS and abnormal ECGs in mouse models of Duchenne muscular dystrophy. J Mol Cell Cardiol. 1999 ; 31 :1857–1862. Crossref Medline Google Scholar 23. [doi.org]

Treatment of the Duchenne muscular dystrophy is not complete. A child suffering cannot be fully cured and thus treatment is rehabilitative, palliative and symptomatic. First line of treatment is steroids to avoid further inflammation and damage to the muscles. Antibiotics might be given to prevent respiratory infections that are common due to poor respiratory muscle tone. Certain exercises and activities will keep the rest of the muscles free from damage. Total inactivity out of weakness will cause worsening of the disease and should be strictly avoided. Physiotherapy and occupational therapy are important to maintain muscle strength. Contractures can be avoided by regular exercising. Mobility has been enhanced amply with appliances like wheel chairs and braces.

Surgery might be indicated in cases of severe contractures for patient comfort and mobility. Aggressive surgical release might prolong patient’s ambulatory convenience by almost 3.5 years [9]. Complications pertaining to the respiratory and cardiovascular systems occur commonly as the disease progresses and hence respiratory support is essential.

Being a congenital mutation, the prognosis is bad as the disease is not curable and muscle destruction continues as age advances. Earlier, only the voluntary muscles are affected but later respiratory and cardiovascular complications are unavoidable. The patients generally survive only till the age of 25 [1]. The recent advances have made it possible for the patients to survive till their 30s.

The dystrophin gene is a large gene present on the X chromosome. The dystrophin gene mutation may be either inherited or acquired due to an injury through germ line transmission. If the mother is a carrier, there is a 50% chance that the son will be affected with Duchenne muscular dystrophy and manifest symptoms and a 50% chance that the daughter will be a carrier. The defect is present on the short-arm of X chromosome [3]. Hoffman and his team located the defective locus in the region of Xp21 on the X chromosome and found that it had almost 2 million bases paired [4].

Duchenne muscular dystrophy affects males and generally symptoms are seen between the ages 3 to 5 years. It affects 1 in 3500 live male neonates and it results in muscle degeneration and deformity leading to death [1] [2]. Females are always carriers. It is the commonest muscular dystrophy.

The dystrophin protein is responsible for our muscular strength and connection of the cytoskeleton of each muscle fiber. There is absolutely no production of dystrophin protein in a case of Duchenne muscular dystrophy, which is present in all voluntary skeletal as well as smooth muscles like cardiac and respiratory. This leads to alteration in the passage of signals during stress and pooling of calcium ions which deteriorates the muscle membrane’s integrity. The lack of dystrophin produces cellular instability a the links it forms within the muscles which eventually leads to muscle weakness and muscular degeneration which is rapid and irreversible.

There is persistent and progressive leaking of the intracellular components resulting in the elevated levels of enzymes (CPK) creatinine phosphokinase found in the laboratory investigations.

There are no guidelines for prevention of Duchenne muscular dystrophy.

Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness and degeneration. It is an X-linked recessive disorder. Duchenne muscular dystrophy is one of the nine types of muscular dystrophies affecting people. Since the genetic mutation is X linked, the carriers are generally females and males are more often affected.

Duchenne Muscular Dystrophy is a recessive X linked disorder. The females are always carriers and males are the ones affected. The disease is seen in children of the age group 3 to 6 years.

This disease is extremely fatal as there is absolute lack of production of dystrophin protein in the muscles due to the deletion of the dystrophin gene on the X chromosome.

The disease starts manifesting symptoms like gradually worsening weakness of the muscles, first affecting the proximal and then the distal muscles. This destruction of muscles leads to limited movements. There is tendency to waddling gait and difficulty in walking, jumping, hoping etc. The calf muscles appear bulky but it is owing to pseudohypertrophy. The muscle strength is lost as protein is replaced by fat and collagen.

Early muscular degeneration eventually leads to movement restriction of these children. Mental retardation is seen in many of these children. Duchenne Muscular Dystrophy is a very disabling disease.

Slowly, as age advances, the children tend to have respiratory and cardiovascular complications and might need to be supported on a ventilator for respiratory support. This is the most dangerous complication for children making death imminent.

Prognosis of patients suffering from Duchenne Muscular Dystrophy is poor as the patients live up to the age of 25 maximum. Certain recent advancements in medications and the appliances makes it possible for them to walk in to their 30’s.

Nonetheless, there is no cure for these children and only palliative treatment can be offered to prolong life. Steroids are the choice of medications given. Since it is a genetic mutation and passed on by the mother, people can avoid it by getting the child genetically tested prenatally. Carrier females should compulsorily rule out such abnormalities.

Counseling the parents about the disease transmission and the prognosis of the disease in children is a very important aspect of the treatment.

Exercise and physiotherapy are the mainstay of the treatment as they help prevention of contractures and ease out movements. Bedridden patients will worsen the disease, hence low force exercises should be continued always.

1. Dubowitz V. Muscle Disorders in Childhood. 2nd ed. Philadelphia, Pa: WB Saunders;1995: 34-132.
2. Emery AE. Duchenne's muscular dystrophy. In: Oxford Monographs on Medical Genetics Series #24. 2nd ed. Oxford, United Kingdom: Oxford University Press;. 1993.
3. González-Herrera L, Gamas-Trujillo PA, García-Escalante MG, Castillo-Zapata I, Pinto-Escalante D. Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy. Rev Neurol. Jan 16-31 2009;48(2):66-70
4. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. Dec 24 1987;51(6):919-28.
5. Shapiro F, Specht L. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. J Bone Joint Surg Am. Mar 1993;75(3):439-54.
6. Prosser EJ, Murphy EG, Thompson MW. Intelligence and the gene for Duchenne muscular dystrophy. Arch Dis Child. Apr 1969;44(234):221-30
7. Pane M, Lombardo ME, Alfieri P, D'Amico A, Bianco F, Vasco G, et al. Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation. J Pediatr. May 4 2012
8. Thrush PT, Allen HD, Viollet L, Mendell JR. Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol. Jan 15 2009;103(2):262-5.
9. Heckmatt JZ, Dubowitz V, Hyde SA, et al. Prolongation of walking in Duchenne muscular dystrophy with lightweight orthoses: review of 57 cases. Dev Med Child Neurol. Apr 1985;27(2):149-54.