ABSTRACTA study on tibial muscular dystrophy (TMD) in a selected patient group in Oslo
TMD is an autosomal distal myopathy which was described for the first time in 1993 by Dr. Udd in Finland who later also showed that this disease is caused by a mutation in the gene coding for the muscle protein, Titin, on chromosome 2q31. The prevalence in Norway is unknown.
TMD typically presents in the thirtees with a symmetrical weakness and atrophy of the muscle in the anterior compartment of the calf. The disease can cause moderate walking difficulties, but most patients are not severely affected. Clinical examination shows reduced strength in m.tibialis anterior. In 10% of the patients, who are homozygous for the mutation in the titin gene, other muscles may be affecte as well. Muscular reflexes and sensibility examinations are normal. On EMG, MRI and musclar biopsy there are findings typical for TMD.
In the study we included patients who had been in contact with the Departement of neurology at Ullevaal University Hospital the last ten years with symptoms that resemble those of TMD. A few patients with a clinical picture similar to TMD were reevaluated both clinically and by laboratory tests, including genetic testing in Dr. Udds laboratory in Finland.
We could not identify any patients with TMD in this patient group and conclude that TMD has a very low prevalence in the Oslo area.