Muscular weakness that steadily progresses is the major symptom of MD. The Duchenne MD is the most common form and the symptoms include:

• Unsteady gait
• Frequent falls
• Difficulty in getting up from resting position
• Difficulty in carrying out activities such as running and jumping
• Difficulty in learning [6]
• Calf muscles are large [7]

Symptoms of Becker MD are more or less similar to Duchnne MD. However, in the former type, the disease progresses at a slower rate and the symptoms first appear during adulthood.

• Falling

  Symptoms include frequent falling, difficulty in climbing, and a waddling gait. Get exclusive access to content from our 1768 First Edition with your subscription. [britannica.com]

  Part 1 of 3: Watching for Symptoms 1 Pay attention to frequent falls. Because muscular dystrophy affects the muscles, it can cause you to fall frequently. [wikihow.com]

  […] 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]

  When to see a doctor Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in you or your child. Causes Certain genes are involved in making proteins that protect muscle fibers. [mayoclinic.org]

  Besides struggling with her breathing, Ali’s teachers notified Messer of her constant falls while walking at school, while Ali complained about her difficulties opening her food during lunch time and not having enough time to eat a full meal. [people.com]

• Fatigue

  Perceptions Fatigue The 8-item Fatigue Severity subscale of the Checklist Individual Strength (CIS) was used for analysis (hereafter referred to as CIS Severity). [hqlo.biomedcentral.com]

  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]

  Pain and fatigue can be a significant factor, often under-appreciated, in limiting daily activities. [fshsociety.org]

  Early symptoms are often nonspecific - eg, morning drowsiness, headaches, nausea, fatigue, poor concentration. Good care improves symptoms and survival. [patient.info]

  Heart Problems The heart muscle weakness of this condition can cause decreased power of each heart contraction, which may manifest as fatigue. [verywellhealth.com]

• Difficulty Climbing Stairs

  Symptoms may include: Progressive muscle weakness and wasting (atrophy) Waddling way of walking Difficulty climbing stairs Difficulty rising from lying or sitting Repeated falling Curvature of the spine Wasting of thigh muscles Abnormal enlargement of [cedars-sinai.edu]

  Symptoms may include: Clumsy movement Difficulty climbing stairs Frequently trips and falls Unable to jump or hop normally Tip toe walking Leg pain Tiring quickly with exertion Facial weakness Inability to close eyes or whistle Shoulder and arm weakness [chop.edu]

  Symptoms may include: Clumsy movement Difficulty climbing stairs Frequently trips and falls Unable to jump or hop normally Tip toe walking Leg pain Facial weakness Inability to close eyes or whistle Shoulder and arm weakness A tell-tale clinical characteristic [stanfordchildrens.org]

• Difficulty Walking

  Symptoms may include: Muscle weakness that slowly gets worse Delayed motor skill development Difficulty controlling or using muscle groups Drooling Frequent falls or poor balance Decrease in muscle size Difficulty walking or delay in starting to walk [nationwidechildrens.org]

  Muscle weakness of the lower body, including the legs and pelvis area, slowly gets worse, causing: Difficulty walking that gets worse over time; by age 25 to 30, the person is usually unable to walk Frequent falls Difficulty getting up from the floor [medlineplus.gov]

  The symptoms include: trouble walking loss of reflexes difficulty standing up poor posture bone thinning scoliosis, which is an abnormal curvature of your spine mild intellectual impairment breathing difficulties swallowing problems lung and heart weakness [healthline.com]

• Camping

  ® Campaign Benefiting Muscular Dystrophy Association hits the $6 million mark Funds Raised Help Send Kids with Muscle Disease to MDA Summer Camp Read More Oct 30 2018 Intersection between big data and therapeutic pipeline in neuromuscular disease will [mda.org]

  Resources The MDA offers a wide variety of educational materials in English and in Spanish, MDA summer camp for kids from 6-18 years with neuromuscular diseases, adaptive equipment loan closet, and financial assistance with repairs or modifications to [luriechildrens.org]

  (AP) — A summer camp for children with muscular dystrophy is moving from Kansas to Missouri, causing confusion for families on both sides of the state line. January 9, 2018 GMT GASTON, S.C. [apnews.com]

• Respiratory Disorders

  Loss of muscle mass ( wasting ) 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) Tests may include: Electromyography [web.archive.org]

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

• Nausea

  Then Carlton Haywood pulls out a bottle of Tums, relief-in-waiting for the nausea he fears will come. "You... It's only a game, until it isn't Jean Marbella, The Baltimore Sun I guess it will happen at some point. [baltimoresun.com]

  Early symptoms are often nonspecific - eg, morning drowsiness, headaches, nausea, fatigue, poor concentration. Good care improves symptoms and survival. [patient.info]

  […] tal-vitriju Last Update: 2017-04-26 Usage Frequency: 1 Quality: Reference: IATE English In clinical trials of patients with Duchenne muscular dystrophy (nmDMD) caused by a nonsense mutation, the most frequent adverse reactions at the recommended dose were nausea [mymemory.translated.net]

• Vomiting

  Last Update: 2017-04-26 Usage Frequency: 1 Quality: Reference: IATE English In clinical trials of patients with Duchenne muscular dystrophy (nmDMD) caused by a nonsense mutation, the most frequent adverse reactions at the recommended dose were nausea, vomiting [mymemory.translated.net]

  The most common side effects are balance problems and vomiting. Although the drug increases dystrophin production, which would predict improvement in muscle function, this has not yet been shown. Anti- seizure drugs reduce muscle spasms. [webmd.com]

• Heart Disease

  Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. [web.archive.org]

• Palpitations

  […] neuromuscular specialist Early diagnosis means early access to treatment, improved outcomes, and better informed family planning Early genetic diagnosis is important, as it can enable entry into appropriate clinical trials Where patients have breathlessness, palpitations [bmj.com]

  If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death. [ghr.nlm.nih.gov]

  […] threshold for cardiology referral for consideration of EPS and/or REVEAL device insertion if there is marked prolongation of PR interval or QRS complex, the development of any form of conduction block or if the patient develops cardiac symptoms such as palpitations [doi.org]

• Irregular Heart Rhythm

  A complete nervous system (neurological), heart, lung, and muscle exam may show: Abnormal heart muscle ( cardiomyopathy ) Congestive heart failure or irregular heart rhythm ( arrhythmia ) Deformities of the chest and back ( scoliosis ) Enlarged muscles [web.archive.org]

  Congestive heart failure or irregular heart rhythm ( arrhythmia ) is present in all people with Duchenne muscular dystrophy by the age of 18. Deformities of the chest and back ( scoliosis ). [medlineplus.gov]

• Muscle Weakness

  Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. [ninds.nih.gov]

  From Wikidata Jump to navigation Jump to search myopathy characterized by progressive skeletal muscle weakness degeneration edit English muscular dystrophy myopathy characterized by progressive skeletal muscle weakness degeneration MD Muscular dystrophy [wikidata.org]

  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. [web.archive.org]

• Myopathy

  […] dystrophy Muscular dystrophy, congenital hereditary Muscular dystrophy, hereditary, congenital Myopathy, central core Myopathy, congenital Myopathy, myotubular Myotubular myopathy Walker Walbug muscular dystrophy, congenital Walker walburg congenital [icd9data.com]

  Nemaline myopathy Nemaline myopathy. Clusters of rod bodies. Gomori trichrome. Nemaline myopathy Nemaline myopathy. EM. [neuropathology-web.org]

  From Wikidata Jump to navigation Jump to search myopathy characterized by progressive skeletal muscle weakness degeneration edit English muscular dystrophy myopathy characterized by progressive skeletal muscle weakness degeneration MD Muscular dystrophy [wikidata.org]

• Muscular Atrophy

  Spinal muscular atrophies: Amyotrophic lateral sclerosis (ALS), or motor neuron disease Infantile progressive spinal muscular atrophy Intermediate spinal muscular atrophy Juvenile spinal muscular atrophy Adult spinal muscular atrophy Inflammatory myopathies [urmc.rochester.edu]

  Spinal muscular atrophies Amyotrophic lateral sclerosis (ALS), or motor neuron disease Infantile progressive spinal muscular atrophy Intermediate spinal muscular atrophy Juvenile spinal muscular atrophy Adult spinal muscular atrophy Inflammatory myopathies [hopkinsmedicine.org]

  Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or feet. [ncbi.nlm.nih.gov]

  Neuromuscular Diagnoses Treated: Becker's muscular dystrophy Duchenne muscular dystrophy Emery-Dreifuss muscular dystrophy Facioscapulohumeral muscular dystrophy Limb-girdle muscular dystrophy Spinal muscular atrophy (SMA) Myotonia congenita Myotonic [ynhh.org]

  Treatment for muscular dystrophy can include: Medication Surgery Physical therapy Assistive technology In addition to muscular dystrophy, our clinical team treats children with: Friedreich's ataxia Myasthenia gravis Spinal muscular atrophy Appointments [chrichmond.org]

• Positive Gower's Sign

  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]

  Gowers’ sign, abnormal gait, muscle pains, calf hypertrophy, unexplained elevated liver enzymes, learning difficulties, behavioural problems, or speech and language delay Test for creatine kinase levels if you suspect any neuromuscular condition. [bmj.com]

  (Gower’s sign); and repeated falling. [rarediseases.org]

  Boys with DMD demonstrate a positive Gowers’ sign, a maneuver used by individuals with proximal muscle weakness to rise from a seated position. Blood creatine kinase (CK) is elevated. [natera.com]

• Foot Deformity

  Symptoms vary and may include: muscle weakness poor motor control inability to sit or stand without support scoliosis foot deformities trouble swallowing respiratory problems vision problems speech problems intellectual impairment While symptoms vary [healthline.com]

  A great body of information exists within the orthotic literature describing their medical use for people with foot problems as well as the impact "orthotics" can have on foot, knee, hip, and spine deformities. [en.wikipedia.org]

  People with congenital MD may develop contractures (chronic shortening of muscles or tendons around joints, which prevents the joints from moving freely), scoliosis, respiratory and swallowing difficulties, and foot deformities. [web.archive.org]

• Waddling Gait

  Symptoms include frequent falling, difficulty in climbing, and a waddling gait. Get exclusive access to content from our 1768 First Edition with your subscription. [britannica.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]

  Common signs include poor balance with frequent falls, walking difficulty with waddling gait and calf pain, and limited range of movement Obesity Joint contractures Cataracts, frontal baldness, drooping eyelids, gonadal atrophy, and mental impairment [healthcentral.com]

  Symptoms include: Difficulty walking, such as lateness in learning how to walk (older than 18 months), having a waddling gait, or walking on the toes or balls of the feet Difficulty running or jumping because of weakness in leg muscles Frequent falls, [orthoinfo.aaos.org]

• Gowers Sign

  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]

  ’ sign, abnormal gait, muscle pains, calf hypertrophy, unexplained elevated liver enzymes, learning difficulties, behavioural problems, or speech and language delay Test for creatine kinase levels if you suspect any neuromuscular condition. [bmj.com]

  In Duchenne muscular dystrophy, young boys start walking very late and have difficulties arising from the floor (Gowers sign, using their hands to push on their legs to get up). Intellectual impairment may also be present. [jamanetwork.com]

  Other gait signs - no spring in the step, cannot hop or jump; toe walking; falls. Gower's sign - 'climbing up legs' using the hands when rising from the floor. [patient.info]

  In addition to gross motor weakness and delay, patients also exhibit muscle pseudohypertrophy especially of the calves, a waddling gait, scoliosis, joint contractures, and the classic yet non-specific Gower’s sign of proximal muscle weakness 1. [radiopaedia.org]

• Limb Weakness

  Learn more about limb girdle muscular dystrophies [kennedykrieger.org]

  Limb-girdle muscular dystrophy (LGMD) LGMDs cause weakness in the muscles around the top of the arms and legs, which is why 'limb girdle' is used in the name of this condition. There are many different types of LGMD. They can affect men or women. [patient.info]

  The first patient was a 9-year-old boy who developed proximal muscle weakness and atrophy of the lower limbs, waddling gait, and lordotic posture by age 6. He had showed unsteady gait at age 4. [web.archive.org]

• Abnormal Gait

  gait, muscle pains, calf hypertrophy, unexplained elevated liver enzymes, learning difficulties, behavioural problems, or speech and language delay Test for creatine kinase levels if you suspect any neuromuscular condition. [bmj.com]

• Behavior Problem

  The first family comprises two brothers of Dutch non-consanguineous parents presenting with mild ID and behavioral problems. [ncbi.nlm.nih.gov]

Physical examination and information on past medical history form the preliminary diagnostic tests. In addition to these, the following tests are recommended to diagnose muscular dystrophy:

• Enzyme analysis: High levels of creatine kinase indicate development of MD. This is so because, muscles that are damaged release this enzyme and its elevated levels is a sign of muscle disorder [8].
• Electromyography is carried out to measure the electrical activity of the muscle. Changes in the pattern of the electrical activity confirm MD [9].
• Genetic testing involves analyzing blood samples for presence of gene mutations.
• Muscle biopsy is carried out to distinguish MD from other types of muscle disorders.

Medications, several therapies and surgical procedures form the basis of treatment. MD cannot be cured; but the symptoms can be managed and the progression can be slowed down with the various treatment regimes [10].

Medications: Medications such as corticosteroids are given to improve the muscle strength and delay the progression of disease. However, experts advise against the prolong use of such drugs due to its associated side effects.

Therapies: Therapies that include exercises, mobility aids and breathing assistance can help the affected individuals in maintaining mobility and improve muscle flexibility. MD causes the respiratory muscles to weaken which in turn leads to breathing problems. In such cases, the sleep apnea device comes of help and aids in providing oxygen supply throughout the night. In severe form of MD, individuals may be required to put on ventilator.

Surgical procedures: These are indicated in conditions, wherein the individuals have breathing problems or heart defects due to MD. Scoliosis surgery is carried out to correct curvature of spine which can also contribute to breathing problems.

The prognosis of the disease greatly depends on the type of MD. Certain cases of MD can be mild in the beginning and progress at a slow rate [5]. Such cases can be managed well with appropriate medications and the disease progression can be arrested. However, other types of MD may cause functional disability and severe muscle weakness interfering with the individual’s ability to walk. In such situations very little can be done to treat or manage the condition.

Muscular dystrophy is a genetic disease. Several genes make up the proteins that protect the muscle fibers from damage. Absence of any one gene can make the muscle fibers susceptible to damage. There are a few types of genetic defects which are inherited; while others occur spontaneously during the embryo formation stage. The types of muscular dystrophy which are inherited include Duchenne, Becker and Emery-Dreifuss [2]. The several types of muscular dystrophy that occur as a result of autosomal genetic defect include facioscapulojumeral, distal, ocular and oculopahryngeal.

The prevalence of MD varies greatly with its type. Duchenne is known to be the most common form of muscular dystrophy affecting more males than females. It has been estimated that Duchenne occurs in about 1 per 3500 live births in US. Becker is the second most common form of MD after Duchenne and affects about 1 per 30,000 live births in US. Other forms of MD are a rare occurrence [3].

Multiple proteins are required for appropriately maintaining the complex interactions taking place in the muscle membrane. Several types of genes are required for making the protein of the muscle fibers which protects it from damage. Absence in any one type of gene can lead to the development of muscular dystrophy. Therefore, genetic mutations which can either be inherited or are spontaneous in nature cause MD to set in [4].

Muscular dystrophy is a genetic disease. Therefore, genetic counseling should be considered in patients who have a family history of the disease. MD can be prevented in about 95% of the cases by genetic testing done during pregnancy.

Muscular dystrophy (MD) is of different types. Of the various forms, Duchenne muscular dystrophy is the most common type that is known to affect boys more compared to girls. Certain forms of MD primarily begin to show effect during childhood days. MD cannot be cured; the symptoms can however be managed and progression of the disease slowed down through medications [1]. The first case of muscular dystrophy was diagnosed in the year 1836 by Conte and Gioja.

Definition

Muscular dystrophy (MD) is a group of genetic diseases that cause severe muscle weakness giving rise to a range of debilitating symptoms. With gradual progression of the condition, the walking ability is gravely hampered and individuals have to end up using wheel chair for mobility. In many cases, the children are the most affected with incidence rates recorded more for boys than girls. There are various types of MD; Duchenne being the most common form.

Cause

Genetic mutation causes muscular dystrophy. Mutations in the gene can either be heredity in nature or can occur spontaneously during the embryo formation.

Symptoms

Symptoms of Duchenne MD manifest early in childhood and include frequent falling, unsteady gait, and difficulty in walking properly, difficulty in running and jumping and inability to learn.

Diagnosis

Muscular dystrophy is diagnosed by thorough physical examination of the signs and symptoms, following which several other tests are also conducted. Enzyme test to detect levels of creatine kinase is done. In addition, muscle biopsy and electromyography are also performed.

Treatment

Medications form the primary line of treatment for muscular dystrophy. In addition, several therapies which include walking aids, exercises are also carried out to help individuals improve their muscle strength and mobility. Surgical procedures are required if the individuals suffer from other secondary complications such as respiratory problems or cardiac defects due to MD.

1. Emery AE.Duchenne's muscular dystrophy. In: Oxford Monographs on Medical Genetics Series #24. 2nd ed. Oxford, United Kingdom: Oxford University Press;. 1993.
2. Kunkel LM, Hejtmancik JF, Caskey CT, et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986; 322:73.
3. Mercuri E, Muntoni F. Muscular dystrophies. Lancet 2013; 381:845.
4. Waite A, Tinsley CL, Locke M, Blake DJ. The neurobiology of the dystrophin-associated glycoprotein complex. Ann Med. Jan 26 2009;1-16.
5. Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle.Physiol Rev 2002; 82:291.
6. 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
7. Donders J, Taneja C. Neurobehavioral Characteristics of Children with Duchenne Muscular Dystrophy. Child Neuropsychol. Jan 22 2009;1-10.
8. Kley RA, Tarnopolsky MA, Vorgerd M. Creatine for treating muscle disorders. Cochrane Database Syst Rev. Feb 16 2011;2:CD004760.
9. 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.
10. Moxley RT 3rd, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2005; 64:13.