Palma Stefano, Keilani Mohammad, Hasenoehrl Tim, Ambrozy Clemens, Dana Sara, Sycha Thomas, Crevenna Richard
Department of Physical Medicine, Rehabilitation and Occupational Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Wien Med Wochenschr. 2018 Oct;168(13-14):367-373. doi: 10.1007/s10354-017-0580-4. Epub 2017 Jul 25.
Congenital fiber-type disproportion is a rare condition, histologically characterized by a relative type 1 fiber hypotrophy. The main clinical feature is mild-to-severe muscle weakness. In this report, we present the case of a 21-year-old patient with congenital fiber-type disproportion in an outpatient rehabilitative setting to evaluate the feasibility and results of an assessment battery, including bioimpedance analysis (BIA), dynamometry, 3D gait analysis, 6‑min walk test (6MWT), and the timed up and go test (TUG). The patient had a notable decrease in all functional scores. BIA: lean body mass, 38.4 kg (50.2 ± 5.3), body fat, 1.6% (12.4 ± 4.4); hand dynamometry: 18.5 kg left/20.0 kg right (44.8 ± 6.6); walking speed, 58 cm/s (122.7 ± 11.1), step length, 43.0 cm (61.6 ± 3.5); 6MWT: 478.5 m (638 ± 44); TUG: 9.4 s (8.1 ± 1.0). No adverse events were reported. The tests used were easily applicable in clinical routine and well tolerated by our patient.
