Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients.
Abstract | BACKGROUND:
Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms. A mild, classic and congenital form can be distinguished. Often the quality of life is reduced by orthopaedic problems, such as muscle weakness, contractures, foot or spinal deformities, which limit patients' mobility.The aim of our study was to gather information about the orthopaedic impairments in patients with DM1 in order to improve the medical care of patients, affected by this rare disease. METHODS: A retrospective clinical study was carried out including 21 patients (11 male and 10 female), all diagnosed with DM1 by genetic testing. All patients were seen during our special consultations for neuromuscular diseases, during which patients were interviewed and examined. We also reviewed surgery reports of our hospitalized patients. RESULTS: We observed several orthopaedic impairments: spinal deformities ( scoliosis, hyperkyphosis, rigid spine), contractures (of the upper extremities and the lower extremities), foot deformities ( equinus deformity, club foot, pes cavus, pes planovalgus, pes cavovarus, claw toes) and fractures.Five patients were affected by pulmonary diseases (obstructive airway diseases, restrictive lung dysfunctions). Twelve patients were affected by cardiac disorders ( congenital heart defects, valvular heart defects, conduction disturbances, pulmonary hypertension, cardiomyopathy).Our patients received conservative therapy (physiotherapy, logopaedic therapy, ergotherapy) and we prescribed orthopaedic technical devices (orthopaedic custom-made shoes, insoles, lower and upper leg orthoses, wheelchair, Rehab Buggy). We performed surgery for spinal and foot deformities: the scoliosis of one patient was stabilized and seven patients underwent surgery for correction of foot deformities. CONCLUSIONS:
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Authors | Lisa Schilling, Raimund Forst, Jürgen Forst, Albert Fujak |
Journal | BMC musculoskeletal disorders
(BMC Musculoskelet Disord)
Vol. 14
Pg. 338
(Dec 01 2013)
ISSN: 1471-2474 [Electronic] England |
PMID | 24289806
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Adolescent
- Adult
- Child
- Child, Preschool
- Contracture
(complications, diagnosis, therapy)
- Female
- Foot Deformities, Congenital
(complications, diagnosis, therapy)
- Fractures, Bone
(complications, diagnosis, therapy)
- Heart Diseases
(complications)
- Humans
- Infant
- Lung Diseases
(complications)
- Male
- Middle Aged
- Myotonic Dystrophy
(complications, diagnosis, genetics, therapy)
- Retrospective Studies
- Spinal Diseases
(complications, diagnosis, therapy)
- Young Adult
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