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Muscular Dystrophy

MD

Muscular dystrophy, abbreviated as MD, is a group of genetic disorders characterized by progressive weakening followed by degeneration of the musculoskeletal system. It is a progressive disease that could lead to debilitating conditions if treatment is not initiated on time.


Presentation

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 unlimited access to all of Britannica’s trusted content.[britannica.com]
  • 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.[symptoma.com]
  • 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]
  • When to see a doctor Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in yourself or your child. Causes Certain genes are involved in making proteins that protect muscle fibers from damage.[mayoclinic.org]
  • The muscle weakness slowly gets worse and symptoms can include: Delayed development of muscle motor skills Difficulty using one or more muscle groups Drooling Eyelid drooping ( ptosis ) Frequent falls Loss of strength in a muscle or group of muscles as[nlm.nih.gov]
Fatigue
  • 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]
  • […] running, hopping, and jumping Loss of muscle mass Toe walking Muscle weakness in the arms, neck, and other areas is not as severe as in the lower body Other symptoms may include: Breathing problems Cognitive problems (these do not get worse over time) Fatigue[web.archive.org]
Difficulty Walking
  • 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[web.archive.org]
  • walking : Ability to walk may be lost by age 12, and the child will have to use a wheelchair.[web.archive.org]
  • You may notice that your child has difficulty walking or climbing stairs, or that they fall down more frequently than other children. Your child may also find it difficult to stand up from sitting on the floor.[nhs.uk]
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]
  • Symptoms may include: Clumsy movement Difficulty climbing stairs Frequently trips and falls Unable to jump or hop normally Tip toe walking A telltale clinical characteristic for DMD is Gowers' sign.[chw.org]
Inguinal Hernia
  • A few inguinal hernia repairs require admission due to peculiarities such as extensive scrotal hernias requiring suction drainage.[ncbi.nlm.nih.gov]
Drooling
  • The muscle weakness slowly gets worse and symptoms can include: Delayed development of muscle motor skills Difficulty using one or more muscle groups Drooling Eyelid drooping ( ptosis ) Frequent falls Loss of strength in a muscle or group of muscles as[nlm.nih.gov]
Pachyonychia
  • On physical examination as an adult, we observed diffuse non-scarring alopecia on the scalp, onychodystrophy (pachyonychia) in all 20 nails, dental decay, mild dysphonia, and severe muscle atrophy mainly affecting the extremities.[ncbi.nlm.nih.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]
  • 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]
  • Immune-mediated necrotizing myopathies (IMNMs) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy.[ncbi.nlm.nih.gov]
Muscular Atrophy
  • The axonal form of Charcot-Marie-Tooth disease with late-onset distal weakness and distal forms of chronic spinal muscular atrophy may mimic those of the distal dystrophies.[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]
  • The University of Michigan’s Muscular Dystrophy Multidisciplinary clinics follows over 700 patients annually, for diagnoses such as Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, and Inherited Neuropathy (Charcot-Marie-Tooth disease, or CMT).[medicine.umich.edu]
  • Read More on This Topic muscle disease: The muscular dystrophies The muscular dystrophies are a group of hereditary disorders characterized by progressive muscular atrophy and weakness.[britannica.com]
Positive Gower's Sign
  • Boys with DMD demonstrate a positive Gowerssign, a maneuver used by individuals with proximal muscle weakness to rise from a seated position. Blood creatine kinase (CK) is elevated.[natera.com]
Waddling Gait
  • Symptoms include frequent falling, difficulty in climbing, and a waddling gait. Get unlimited access to all of Britannica’s trusted content.[britannica.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,[web.archive.org]
  • Parents may first see that their three-to-five year old child frequently falls, runs slowly, walks on his toes or has a waddling gait. The child’s calves are often unusually large.[kennedykrieger.org]
  • Inability to rise to an upright position without turning to the side, waddling gait, and progressive weakness are the characteristic features. Pseudohypertrophy of the calf muscles is due to fibrous tissue and fat infiltration.[icd9data.com]
Gowers Sign
  • 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]
  • Symptoms may include: Clumsy movement Difficulty climbing stairs Frequently trips and falls Unable to jump or hop normally Tip toe walking A telltale clinical characteristic for DMD is Gowers' sign.[chw.org]
Limb Weakness
  • The symptoms of FSH dystrophy may appear during childhood with severe facial and limb weakness or develop slowly and gradually in adulthood with progressive difficulty closing the eyes and lifting objects, as well as tripping.[kennedykrieger.org]
Nasal Speech
  • Fasciculation and atrophy of the tongue with dysphagia, dysarthria, and thickened nasal speech are usually associated.[icd9data.com]
Walking Delay
  • (delayed walking) Intellectual disability is present in some types of muscular dystrophy.[nlm.nih.gov]

Workup

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.

Treatment

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.

Prognosis

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.

Etiology

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.

Epidemiology

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].

Sex distribution
Age distribution

Pathophysiology

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].

Prevention

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.

Summary

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.

Patient Information

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.

References

Article

  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.

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Last updated: 2018-06-22 06:06