| Descriptor English: | Myotonic Dystrophy | ||||||
| Descriptor Spanish: |
Distrofia Miotónica
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| Descriptor Portuguese: | Distrofia Miotônica | ||||||
| Descriptor French: | Dystrophie myotonique | ||||||
| Entry term(s): |
Atrophica, Myotonia Atrophicas, Myotonia Congenital Myotonic Dystrophies Congenital Myotonic Dystrophy Disease, Steinert Disease, Steinert's Dystrophia Myotonica Dystrophia Myotonica 1 Dystrophia Myotonica 2 Dystrophia Myotonica 2s Dystrophia Myotonicas Dystrophica, Myotonia Dystrophicas, Myotonia Dystrophies, Congenital Myotonic Dystrophies, Myotonic Dystrophy, Congenital Myotonic Dystrophy, Myotonic Dystrophy, Steinert Myotonic Myopathies, Proximal Myotonic Myopathy, Proximal Myotonic Myotonia Atrophica Myotonia Atrophicas Myotonia Dystrophica Myotonia Dystrophicas Myotonic Dystrophies Myotonic Dystrophies, Congenital Myotonic Dystrophy 1 Myotonic Dystrophy 2 Myotonic Dystrophy, Congenital Myotonic Dystrophy, Steinert Myotonic Myopathies, Proximal Myotonic Myopathy, Proximal Myotonica, Dystrophia Myotonicas, Dystrophia PROMM (Proximal Myotonic Myopathy) PROMMs (Proximal Myotonic Myopathy) Proximal Myotonic Myopathies Proximal Myotonic Myopathy Ricker Syndrome Steinert Disease Steinert Myotonic Dystrophy Steinert's Disease Steinerts Disease Syndrome, Ricker |
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| Tree number(s): |
C05.651.534.500.500 C05.651.662.750 C10.574.500.547 C10.668.491.175.500.500 C10.668.491.606.750 C16.320.400.542 C16.320.577.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009223 | ||||||
| Scope note: | Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. |
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| Annotation: | do not confuse with MUSCULAR DYSTROPHIES |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification 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 VE veterinary VI virology |
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| Public MeSH Note: | 2000; see MYOTONIA ATROPHICA 1966-1999; for MYOTONIC DYSTROPHY see MYOTONIC ATROPHICA 1993-1999 |
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| History Note: | 2000(1966) |
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| Related: |
DNA Repeat Expansion
MeSH Myotonin-Protein Kinase MeSH Trinucleotide Repeat Expansion MeSH | ||||||
| DeCS ID: | 9414 | ||||||
| Unique ID: | D009223 | ||||||
| NLM Classification: | WE 559 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1966/01/01 | ||||||
| Date of Entry: | 1999/11/08 | ||||||
| Revision Date: | 2014/06/20 |
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Myotonic Dystrophy
- Preferred
Myotonic Dystrophy, Congenital
- Related but not broader or narrower
Myotonic Dystrophy 2
- Related but not broader or narrower
| Concept UI |
M0014372 |
| Scope note | Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. |
| Preferred term | Myotonic Dystrophy |
| Entry term(s) |
Atrophica, Myotonia Atrophicas, Myotonia Disease, Steinert Disease, Steinert's Dystrophia Myotonica Dystrophia Myotonica 1 Dystrophia Myotonicas Dystrophica, Myotonia Dystrophicas, Myotonia Dystrophies, Myotonic Dystrophy, Myotonic Dystrophy, Steinert Myotonic Myotonia Atrophica Myotonia Atrophicas Myotonia Dystrophica Myotonia Dystrophicas Myotonic Dystrophies Myotonic Dystrophy 1 Myotonic Dystrophy, Steinert Myotonica, Dystrophia Myotonicas, Dystrophia Steinert Disease Steinert Myotonic Dystrophy Steinert's Disease Steinerts Disease |
| Concept UI |
M0335623 |
| Preferred term | Myotonic Dystrophy, Congenital |
| Entry term(s) |
Congenital Myotonic Dystrophies Congenital Myotonic Dystrophy Dystrophies, Congenital Myotonic Dystrophy, Congenital Myotonic Myotonic Dystrophies, Congenital |
| Concept UI |
M0532470 |
| Preferred term | Myotonic Dystrophy 2 |
| Entry term(s) |
Dystrophia Myotonica 2 Dystrophia Myotonica 2s Myopathies, Proximal Myotonic Myopathy, Proximal Myotonic Myotonic Myopathies, Proximal Myotonic Myopathy, Proximal PROMM (Proximal Myotonic Myopathy) PROMMs (Proximal Myotonic Myopathy) Proximal Myotonic Myopathies Proximal Myotonic Myopathy Ricker Syndrome Syndrome, Ricker |
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