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Autosomal dominant Emery–Dreifuss muscular dystrophy: a new family with late diagnosis
- Source :
- Neuromuscular Disorders. 12:19-25
- Publication Year :
- 2002
- Publisher :
- Elsevier BV, 2002.
-
Abstract
- Emery-Dreifuss muscular dystrophy is characterized by the clinical triad of early onset contractures of elbows, Achilles tendons and spine, wasting and weakness with a predominantly humero-peroneal distribution and life-threatening cardiac conduction defects and/or cardiomyopathy. Two main types of inheritance have been described: the X-linked form is caused by mutations in the STA gene on locus Xq28 and the gene for the autosomal dominant form (LMNA gene) has been localized on chromosome 1q11-q23. Recently, mutations in this LMNA gene have been also found to be responsible for the less frequent autosomal recessive form of the disease. Although all forms share a similar clinical presentation, some differences appear to exist between them as has been described recently in a large number of patients. We present the first documented Spanish family genetically confirmed to have autosomal dominant Emery-Dreifuss muscular dystrophy. Clinical, pathological and genetic data are described. We emphasize the difficulties in diagnosis, especially in sporadic cases or young patients in whom the clinical picture is not completely established.
- Subjects :
- musculoskeletal diseases
congenital, hereditary, and neonatal diseases and abnormalities
Weakness
Contracture
Adolescent
Biopsy
Cardiomyopathy
Locus (genetics)
Achilles Tendon
LMNA
Elbow Joint
medicine
Humans
Emery–Dreifuss muscular dystrophy
Muscular dystrophy
Child
Polymorphism, Single-Stranded Conformational
Genetics (clinical)
Genes, Dominant
Muscle contracture
Family Health
Genetics
business.industry
Nuclear Proteins
Middle Aged
medicine.disease
Lamins
Muscular Dystrophy, Emery-Dreifuss
Spine
Pedigree
Xq28
Neurology
Pediatrics, Perinatology and Child Health
Female
Neurology (clinical)
medicine.symptom
Cardiomyopathies
business
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Neuromuscular Disorders
- Accession number :
- edsair.doi.dedup.....926cc7528fe11dcd338dbd7ad0cfedf0