Overview
A generic term for hereditary muscle diseases in which the tissue of the muscles used to move the hands and feet repeats necrosis and regeneration.It is progressive and causes muscle weakness and muscle atrophy.Although there are no accurate statistics on the prevalence rate, it is said that there are about 20 patients per 100,000 people, and it is designated as an incurable disease.Depending on the age of onset, progression and hereditary form, Duchenne type muscular dystrophy, Becker type muscular dystrophy, Fukuyama type congenital muscular dystrophy, and muscular tonic muscular dystrophy are classified.The prevalence varies from race to country, but the relatively high incidence is Duchenne muscular dystrophy.In Japan, there are more cases of Fukuyama-type congenital muscular dystrophy than in other countries.cause
As the protein needed for muscle fibers is not produced, the muscle strength is reduced and the motor function is impaired due to breakage or degeneration.There are other similar muscle diseases, but in the case of muscular dystrophy, many of them are hereditary.Gene mutations may be inherited from parents, but they may also be caused by mutations.The mechanisms and methods of inheritance from genetic variation to cell dysfunction vary by type.For example, Duchenne muscular dystrophy takes the form of X-chromosome recessive inheritance and appears in many boys.Muscle dystrophy with similar symptoms may have different locations of gene mutations, and the same mutation may have different symptoms, and many types do not know the responsible gene.The progress and risk of symptoms vary depending on the type, so it is necessary to accurately determine the type of disease.symptom
The course of symptoms varies depending on the type of disease, but the main symptoms are joint movement restriction (contracture) and movement disorder due to atrophy of the muscles of the hands and feet.It also often causes various complications such as dyspnea, dysphagia, myocardial disorders, abnormal bone metabolism, thyroid dysfunction, and hearing loss.For example, Duchenne muscular dystrophy is found to be prone to fall around the age of four and cannot run.Around the age of 10, walking becomes difficult and people start using wheelchairs, and sometimes have difficulty breathing and cardiomyopathy.In the case of congenital muscular dystrophy, it occurs in infancy and the muscle strength of the whole body, including the face, is reduced.be discovered by developmental retardation, etc.The peak of motor development is five or six years old, and then degenerates due to muscle contraction.examination and diagnosis
Blood tests will examine these numbers because the number of enzymes increases when muscles are destroyed.Blood tests taken at medical examinations may reveal the disease.A type of disease can be identified by performing a ′needle electromyogram examination′ to examine abnormalities of muscles and nerves by inserting a needle-like electrode into the muscle, and then performing a muscle biopsy to collect a part of the muscle tissue and observe it under a microscope.In some cases, CT and MRI scans are performed as differential diagnoses.In addition, it is possible to determine whether the patient is a cause or not by a genetic test, and for muscular dystrophy of a disease type with a high incidence, genetic diagnosis can be relatively simple.treatment
Currently, there is no fundamental remedy, and the main treatment is to slow the deterioration of the symptoms.Specifically, steroids are administered.New drugs are being developed at any time.Rehabilitation such as muscle training is also effective, and joint operation area training can be conducted early on under the guidance of experts to prevent body deformation and pain.Orthopedic surgery is performed on the deformation of the spine as necessary.In order to maintain respiratory function, it is important to undergo rehabilitation and adopt a nasal mask ventilator when breathing on your own becomes difficult.Since there is a risk of aspiration pneumonia when food enters the organ, stomach wax or the like is used when swallowing power is reduced.In some cases, pacemakers are introduced for the deterioration of cardiac function.Since the medical conditions, rehabilitation and care methods change with each progression, it is necessary to conduct a functional evaluation periodically to check for complications.
A generic term for hereditary muscle diseases in which the tissue of the muscles used to move the hands and feet repeats necrosis and regeneration.It is progressive and causes muscle weakness and muscle atrophy.Although there are no accurate statistics on the prevalence rate, it is said that there are about 20 patients per 100,000 people, and it is designated as an incurable disease.Depending on the age of onset, progression and hereditary form, Duchenne type muscular dystrophy, Becker type muscular dystrophy, Fukuyama type congenital muscular dystrophy, and muscular tonic muscular dystrophy are classified.The prevalence varies from race to country, but the relatively high incidence is Duchenne muscular dystrophy.In Japan, there are more cases of Fukuyama-type congenital muscular dystrophy than in other countries.cause
As the protein needed for muscle fibers is not produced, the muscle strength is reduced and the motor function is impaired due to breakage or degeneration.There are other similar muscle diseases, but in the case of muscular dystrophy, many of them are hereditary.Gene mutations may be inherited from parents, but they may also be caused by mutations.The mechanisms and methods of inheritance from genetic variation to cell dysfunction vary by type.For example, Duchenne muscular dystrophy takes the form of X-chromosome recessive inheritance and appears in many boys.Muscle dystrophy with similar symptoms may have different locations of gene mutations, and the same mutation may have different symptoms, and many types do not know the responsible gene.The progress and risk of symptoms vary depending on the type, so it is necessary to accurately determine the type of disease.symptom
The course of symptoms varies depending on the type of disease, but the main symptoms are joint movement restriction (contracture) and movement disorder due to atrophy of the muscles of the hands and feet.It also often causes various complications such as dyspnea, dysphagia, myocardial disorders, abnormal bone metabolism, thyroid dysfunction, and hearing loss.For example, Duchenne muscular dystrophy is found to be prone to fall around the age of four and cannot run.Around the age of 10, walking becomes difficult and people start using wheelchairs, and sometimes have difficulty breathing and cardiomyopathy.In the case of congenital muscular dystrophy, it occurs in infancy and the muscle strength of the whole body, including the face, is reduced.be discovered by developmental retardation, etc.The peak of motor development is five or six years old, and then degenerates due to muscle contraction.examination and diagnosis
Blood tests will examine these numbers because the number of enzymes increases when muscles are destroyed.Blood tests taken at medical examinations may reveal the disease.A type of disease can be identified by performing a ′needle electromyogram examination′ to examine abnormalities of muscles and nerves by inserting a needle-like electrode into the muscle, and then performing a muscle biopsy to collect a part of the muscle tissue and observe it under a microscope.In some cases, CT and MRI scans are performed as differential diagnoses.In addition, it is possible to determine whether the patient is a cause or not by a genetic test, and for muscular dystrophy of a disease type with a high incidence, genetic diagnosis can be relatively simple.treatment
Currently, there is no fundamental remedy, and the main treatment is to slow the deterioration of the symptoms.Specifically, steroids are administered.New drugs are being developed at any time.Rehabilitation such as muscle training is also effective, and joint operation area training can be conducted early on under the guidance of experts to prevent body deformation and pain.Orthopedic surgery is performed on the deformation of the spine as necessary.In order to maintain respiratory function, it is important to undergo rehabilitation and adopt a nasal mask ventilator when breathing on your own becomes difficult.Since there is a risk of aspiration pneumonia when food enters the organ, stomach wax or the like is used when swallowing power is reduced.In some cases, pacemakers are introduced for the deterioration of cardiac function.Since the medical conditions, rehabilitation and care methods change with each progression, it is necessary to conduct a functional evaluation periodically to check for complications.
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