Abstract
BackgroundMyotonic 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.MethodsA 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.ResultsWe 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.ConclusionsAn orthopaedic involvement in DM1 patients should not be underestimated. The most common orthopaedic impairments are contractures, foot deformities and spinal deformities. Contractures are typically located distally in the lower extremities, but can also occur in the hip or shoulder joints. Foot deformities could be treated with orthopaedic custom-made shoes, orthoses or insoles. Surgery is indicated for severe foot deformities or contractures.
Highlights
Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults
Myotonic Dystrophy Type 1 (DM1) or CurschmannSteinert disease is the most common form of hereditary myopathy presenting in adults [1]
Cardiac and pulmonary involvement We focused on the orthopaedic manifestations of Myotonic dystrophy type 1 (DM1), but several patients in our study suffered from non-orthopaedic disorders of this systemic disease
Summary
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. Myotonic Dystrophy Type 1 (DM1) or CurschmannSteinert disease is the most common form of hereditary myopathy presenting in adults [1] This autosomaldominant systemic disorder is caused by a CTG repeat in the DMPK (myotonic dystrophy protein kinase) gene on mild form of DM1, phenotypically presenting with cataracts, mild myotonia and normal life expectancy [3]. The classic form (up to 1,000 repeats) starts between 10 and 30 years of age [3] with symptoms, such as distal muscle weakness, facial dysplasia, cardiac conduction defects [5,6], gastrointestinal manifestations [3], cataracts [7], cognitive changes and more rarely, skin diseases and endocrine dysfunctions [3]. Patients suffer from the classic symptoms as well as from infantile hypotonia, positional malformations [8], respiratory problems [9] and mental handicap [3]
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