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Wiener Medizinische Wochenschrift

, Volume 168, Issue 13–14, pp 367–373 | Cite as

Congenital fiber-type disproportion in an ambulatory rehabilitation setting

A case report
  • Stefano Palma
  • Mohammad Keilani
  • Tim Hasenoehrl
  • Clemens Ambrozy
  • Sara Dana
  • Thomas Sycha
  • Richard Crevenna
case report
  • 45 Downloads

Summary

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.

Keywords

Congenital structural myopathy Assessment Exercise Gait analysis Case report 

Kongenitale Muskelfaserdysproportion im ambulanten rehabilitativen Setting

Fallbericht

Zusammenfassung

Die kongenitale Muskelfaserdysproportion (KMFD, G71.2) ist eine seltene angeborene Muskelfasererkrankung und histologisch durch eine relative Typ-1-Faser-Hypotrophie charakterisiert. Klinisch imponiert eine generalisierte Muskelschwäche unterschiedlicher Ausprägung von leicht- bis schwergradig. Dieser Fallbericht beschreibt einen besonders stark betroffenen 21-jährigen KMFD-Patienten im ambulanten, physikalisch-medizinischen rehabilitativen Setting. Das Assessment erfolgte komplikationslos mittels Anamnese, klinischer Untersuchung, Bioimpedanzanalyse (BIA), Handdynamometrie, 3‑D-Ganganalyse, 6‑min-Gehtest (6MWT) und Timed-Up-and-Go-Test (TUG) als Basis zur Erstellung eines 3‑monatigen ambulanten physikalisch-rehabilitativen Therapieplans. Der Patient zeigte in allen Funktionsbereichen stark unterdurchschnittliche Werte: BIA: Magermasse 38,4 kg (50,2 ± 5,3), Fettmasse: 1,6 % (12,4 ± 4,4); Handdynamometrie 18,5 kg links/20,0 kg rechts (44,8 ± 6,6), Ganggeschwindigkeit 58 cm/s (122,7 ± 11,1), Schrittlänge 43,0 cm (61,6 ± 3,5); 6MWT: 478,5 m (638 ± 44); TUG 9,4 s (8,1 ± 1,0). Es wurden keine unerwünschten Ereignisse angegeben. Die Tests waren einfach im klinischen Routineablauf durchzuführen und wurden vom Patienten gut toleriert. Das beschriebene Assessment scheint sicher durchführbar zu sein und kann für dieses spezielle Patientenkollektiv, je nach Fragestellung, im ambulanten Setting empfohlen werden.

Schlüsselwörter

Kongenitale strukturelle Myopathie Assessment Training Ganganalyse Fallbericht 

Notes

Compliance with ethical guidelines

Conflict of interest

S. Palma, M. Keilani, T. Hasenoehrl, C. Ambrozy, S. Dana, T. Sycha, and R. Crevenna declare that they have no competing interests.

Ethical standards

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Springer-Verlag GmbH Austria 2017

Authors and Affiliations

  1. 1.Department of Physical Medicine, Rehabilitation and Occupational MedicineMedical University of ViennaViennaAustria
  2. 2.Department of NeurologyMedical University of ViennaViennaAustria

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