DiseaseID 26598
杜氏肌营养不良症
Muscular Dystrophy, Duchenne Type
NCI2016_02D:An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extrem
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Disease: 1Formula: 15Herb: 1Symptom: 6Target: 24Links: 46
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26598
- Core Entity Id
- 119166
- Source Entity Count
- 1
- Preferred Name
- Muscular Dystrophy, Duchenne Type
- Name Cn
- 杜氏肌营养不良症
- Name Pinyin
- Du Shi Ji Ying Yang Bu Liang Zheng
- Name En
- Muscular Dystrophy, Duchenne Type
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.|MSH2017_2016_08_12:An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)|JABL99:Pelvic muscle weakness and atrophy associated with pseudohypertrophy of the calves. Two basic types are recognized: Duchenne muscular dystrophy (Type I) Synonym: childhood pseudohypertrophic muscular dystrophy with the onset of symptoms between the ages of 3 and 5 years, the patients becoming bedridden by age of 12 and death by age 20 to 25 years. Becker muscular dystrophy (Type II) Synonyms: adult pseudohypertrophic muscular dystrophy mild or benign X-linked recessive muscular dystrophy with onset of symptoms between the ages of 20 and 30 years and relatively normal life expectancy in most cases. Atrophic changes begin in the muscles of the pectoral girdle and trunk and extend to the extremities. As their size increases, the muscles become firm and resilient, but their strength diminishes and, eventually, atrophy ensues. 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. Involvement of the heart consists of usually terminal cardiomyopathy. Fasciculation and atrophy of the tongue with dysphagia, dysarthria, and thickened nasal speech are usually associated. Usually mild and static mental retardation occurs in about 30% DMD patients most children having normal, even superior intelligence.|CSP2006:X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course.|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Muscular Dystrophy, Duchenne Type
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0013264
Sym Map
SMDE04250
Etcm Disease
Muscular Dystrophy, Duchenne Type
Itcmdb Generated
ITX-DISEASE-A489D7226D9B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Muscular Dystrophy, Duchenne Type Details page
Basic Information
Disease Name
Muscular Dystrophy, Duchenne Type
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Muscle diseases;Neuronal diseases
Disease Definition
NCI2016_02D:An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.|MSH2017_2016_08_12:An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)|JABL99:Pelvic muscle weakness and atrophy associated with pseudohypertrophy of the calves. Two basic types are recognized: Duchenne muscular dystrophy (Type I) Synonym: childhood pseudohypertrophic muscular dystrophy with the onset of symptoms between the ages of 3 and 5 years, the patients becoming bedridden by age of 12 and death by age 20 to 25 years. Becker muscular dystrophy (Type II) Synonyms: adult pseudohypertrophic muscular dystrophy mild or benign X-linked recessive muscular dystrophy with onset of symptoms between the ages of 20 and 30 years and relatively normal life expectancy in most cases. Atrophic changes begin in the muscles of the pectoral girdle and trunk and extend to the extremities. As their size increases, the muscles become firm and resilient, but their strength diminishes and, eventually, atrophy ensues. 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. Involvement of the heart consists of usually terminal cardiomyopathy. Fasciculation and atrophy of the tongue with dysphagia, dysarthria, and thickened nasal speech are usually associated. Usually mild and static mental retardation occurs in about 30% DMD patients most children having normal, even superior intelligence.|CSP2006:X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course.|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness|CHV2011_02:a kind of inherited disorder, characterized by rapidly-worsening muscle weakness