| Descriptor English: | Muscular Dystrophy, Emery-Dreifuss | ||||||
| Descriptor Spanish: |
Distrofia Muscular de Emery-Dreifuss
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| Descriptor Portuguese: | Distrofia Muscular de Emery-Dreifuss | ||||||
| Descriptor French: | Dystrophie musculaire d'Emery-Dreifuss | ||||||
| Entry term(s): |
Autosomal Recessive Emery Dreifuss Muscular Dystrophy Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Emery Dreifuss Muscular Dystrophy Emery Dreifuss Muscular Dystrophy, Autosomal Recessive Emery Dreifuss Syndrome Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive Emery-Dreifuss Syndrome Emery-Dreifuss Type Muscular Dystrophy MYH7-Related Scapuloperoneal Myopathy Muscular Dystrophy, Emery Dreifuss Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive Muscular Dystrophy, Scapuloperoneal Myopathy, MYH7-Related Scapuloperoneal Scapuloperoneal Muscular Dystrophy Scapuloperoneal Myopathy, MYH7 Related Scapuloperoneal Myopathy, MYH7-Related |
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| Tree number(s): |
C05.651.534.500.350 C10.668.491.175.500.350 C16.320.322.625 C16.320.577.350 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D020389 | ||||||
| Scope note: | A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VI virology |
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| Previous Indexing: |
Muscular Dystrophies (1966-1999) |
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| Public MeSH Note: | 2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL see MUSCULAR DYSTROPHIES 2000-2004 |
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| History Note: | 2000; for MUSCULAR DYSTROPHY, SCAPULOPERONEAL use MUSCULAR DYSTROPHIES 2000-2004 |
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| DeCS ID: | 34191 | ||||||
| Unique ID: | D020389 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/08 | ||||||
| Revision Date: | 2020/02/21 |
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Muscular Dystrophy, Emery-Dreifuss
- Preferred
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
- Narrower
Scapuloperoneal Muscular Dystrophy
- Related but not broader or narrower
| Concept UI |
M0328183 |
| Scope note | A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. |
| Preferred term | Muscular Dystrophy, Emery-Dreifuss |
| Entry term(s) |
Emery Dreifuss Muscular Dystrophy Emery Dreifuss Syndrome Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Syndrome Emery-Dreifuss Type Muscular Dystrophy Muscular Dystrophy, Emery Dreifuss Muscular Dystrophy, Emery-Dreifuss Type |
| Concept UI |
M0464071 |
| Preferred term | Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
| Entry term(s) |
Autosomal Recessive Emery Dreifuss Muscular Dystrophy Emery Dreifuss Muscular Dystrophy, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive |
| Concept UI |
M000655659 |
| Preferred term | Scapuloperoneal Muscular Dystrophy |
| Entry term(s) |
MYH7-Related Scapuloperoneal Myopathy Muscular Dystrophy, Scapuloperoneal Myopathy, MYH7-Related Scapuloperoneal Scapuloperoneal Myopathy, MYH7 Related Scapuloperoneal Myopathy, MYH7-Related |
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