Abstract
PurposeTo evaluate with Magnetic Resonance (MR) the degree of fatty replacement and edematous involvement in skeletal muscles in patients with Tubular Aggregate Myopathy (TAM). To asses the inter-observer agreement in evaluating muscle involvement and the symmetry index of fatty replacement.Materials and Methods13 patients were evaluated by MR to ascertain the degree of fatty replacement (T1W sequences) according to Mercuri's scale, and edema score (STIR sequences) according to extent and site.ResultsFatty replacement mainly affects the posterior superficial compartment of the leg; the anterior compartment is generally spared. Edema was generally poor and almost only in the superficial compartment of the leg. The inter-observer agreement is very good with a Krippendorff's coefficient >0.9. Data show a total symmetry in the muscular replacement (McNemar-Bowker test with p = 1).ConclusionsMR reveals characteristic muscular involvement, and is a reproducible technique for evaluation of TAM. There may also be a characteristic involvement of the long and short heads of the biceps femoris. It is useful for aimed biopsies, diagnostic hypotheses and evaluation of disease progression.
Highlights
Tubular Aggregate Myopathy (TAM) is a congenital myopathy characterized by progressive loss of strength, mainly proximal, and frequent cramps and muscle pains induced by exercise
Tubular aggregates are believed to form as a consequence of genetic and/or functional variations, which mainly affect the mechanisms involved in muscle excitation or calcium regulation [1]
After the review board of the University of Padova had approved this prospective study, our Neurophysiology Center selected 13 patients with TAM (M/F: 8/5, average age 40.4, range 17–67), according to the following criteria: N clinical condition characterized by progressive loss of strength and/or muscle pains, with cramps and increased hematic CK; N muscle biopsy revealing tubular aggregates defined as basophilic material in H&E, reddish in color with modified Gomori trichrome stain, intensely reactive to NADH-TR and with negative reaction to SDH; in some cases, diagnosis of TAM was confirmed by electron microscopy; N absence of other neuromuscular disorders involving loss of strength and tubular aggregates
Summary
Tubular Aggregate Myopathy (TAM) is a congenital myopathy characterized by progressive loss of strength, mainly proximal, and frequent cramps and muscle pains induced by exercise. It is characterized by tubular aggregates in muscle fibers. Tubular aggregates are believed to form as a consequence of genetic and/or functional variations, which mainly affect the mechanisms involved in muscle excitation or calcium regulation [1]. No gene responsible for the pathology has been identified: as no specific genetic test is available, clinical and histological examinations, immunohistochemical and histoenzymatic analyses of muscle biopsies, electron microscopy and electromyography are performed for diagnosis
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