Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician

<p>Abstract</p> <p>Background</p> <p>New therapeutic strategies in muscular dystrophies will make a difference in prognosis only if they are begun early in the course of the disease. Therefore, we investigated factors that influence the time to diagnosis in muscle dystrophy patients.</p> <p>Methods</p> <p>A sample of 101 patients (mean age 49 years; range 19-80; 44% women) with diagnosed muscle dystrophies from neurological practices and the neuromuscular specialty clinic in Berlin, Germany, was invited to participate. Time from first consultation to diagnosis, subspecialty of physician, and sociodemographic data were assessed with self-report questionnaires. The association between time to diagnosis and potential predictors (subspecialty of initially consulted physician, diagnoses, gender, and age at onset) was modeled with linear regression analysis.</p> <p>Results</p> <p>The mean time span between first health-care contact and diagnosis was 4.3 years (median 1). The diagnostic delay was significantly longer if patients were initially seen by a non-neurological specialist compared to a general practitioner (5.2 vs. 3.5 years, p = 0.047). Other factors that were independently associated with diagnostic delay were female gender and inherited muscle disease.</p> <p>Conclusion</p> <p>Action to improve clinical awareness of muscle diseases in non-neurological specialists is needed.</p

Radiculopathy at the C5/6 intervertebral foramen resulting in isolated atrophy of the deltoid: an aberrant innervation complicating diagnosis. Report of two cases

We present two cases in which the diagnosis was complicated by the presence of a weak muscle innervated by a compressed motor root in the intervertebral foramen (IVF) at an atypical level. The patients were 59- and 53-year-old men; they presented with marked atrophy and weakness predominantly in a unilateral deltoid. Neuroimaging revealed narrowing of the nerve root sleeve at the C5/6 IVF due to a herniated disk or osteophyte. Predominant atrophy and weakness of the deltoid were not consistent with radiculopathy at the C5/6 IVF, i.e. C6 radiculopathy. During an extended observation period to rule out motor neuron disease, their weakness did not spread and the patients underwent posterior medial facetectomy and anterior foraminotomy. This produced marked improvement of the deltoid weakness soon after the operation. We considered unexpectedly wide motor innervation of the C6 nerve root predominantly in the deltoid, anatomic variations in the C5 root such as the trunk of the C5 root entering into the C5/6 IVF, and descending anastomoses connecting the C5 and C6 rootlets as possible explanations. Awareness of this rare presentation may aid in the diagnosis and surgical management of these patients