Vol. 9 No. 2 (2017): Archives of Public Health
Clinical Science

Importance of 6-minute walk test in diagnostics of rare metabolic myopathy - a case report of carnitine palmitoyltransferase II deficiency

Наталија (Natalija) Ангелкова (Angelkova)
Универзитетска клиника за детски болести, Медицински факултет, Универзитет "žÐ¡Ð². Кирил и Методиј", Скопје
Елена (Elena) Шукарова-Ангеловска (Sukarova-Angelovska)
Универзитетска клиника за детски болести, Медицински факултет, Универзитет "žÐ¡Ð². Кирил и Методиј", Скопје
Мирјана (Mirjana) Кочова (Kocova)
Универзитетска клиника за детски болести, Медицински факултет, Универзитет "žÐ¡Ð². Кирил и Методиј", Скопје
Филип (Filip) Дума (Duma)
Универзитетска клиника за детски болести, Медицински факултет, Универзитет "žÐ¡Ð². Кирил и Методиј", Скопје
Весна (Vesna) Саболиќ (Sabolic)
Универзитетска клиника за детски болести, Медицински факултет, Универзитет "žÐ¡Ð². Кирил и Методиј", Скопје
Христина (Hristina) Манџуковска (Mandzukovska)
Универзитетска клиника за детски болести, Медицински факултет, Универзитет "žÐ¡Ð². Кирил и Методиј", Скопје

Published 2018-03-17

Keywords

  • 6 minutes walking test,
  • carnitine palmitoyltransferase II deficiency

How to Cite

1.
Ангелкова (Angelkova) Наталија (Natalija), Шукарова-Ангеловска (Sukarova-Angelovska) Елена (Elena), Кочова (Kocova) Мирјана (Mirjana), Дума (Duma) Филип (Filip), Саболиќ (Sabolic) Весна (Vesna), Манџуковска (Mandzukovska) Христина (Hristina). Importance of 6-minute walk test in diagnostics of rare metabolic myopathy - a case report of carnitine palmitoyltransferase II deficiency. Arch Pub Health [Internet]. 2018 Mar. 17 [cited 2024 Mar. 28];9(2):12-7. Available from: https://www.id-press.eu/aph/article/view/1352

Abstract

Diagnosis of rare inherited neuromuscular disorders is sometimes delayed due to variations in time of onset, different clinical appearance and limited diagnostic possibilities. The management of patients  starts  with neurological examination, followed by  specific laboratory tests  and neurophysiologic assessment. In the  era of molecular medicine, molecular biology tools are useful in avoiding some of the invasive investigations such as muscle biopsy. We present a boy with a mild form of metabolic myopathy due to carnitine  palmitoyltransferase  2 deficiency diagnosed upon timed functional assessment. A child had delayed developmental milestones, associated with fatigue and muscle pain during exercising and longer walks. There were no episodes of myoglobinuiria during exercise or during febrile illnesses. Neurological examination reveled proximal muscle weakness. Serum creatine kinase (CK) and serum lactate were above normal limits. Serum acylcarnitine profile was normal. Short timed functional tests such as 10 meters  walk/run test  showed normal results. Nord Star Ambulatory Assessment showed difficulties in balance and jumping. Diagnosis of myopathy was suspected after performance of 6-minute walk test, when the passed distance was 327 meters with slowing and fatigue. EMG and echocardiography were within normal range. Diagnosis was established by sequencing  of the CPT II gene which revealed   c.338C>T (p.Ser113Leu) mutation in homozygous form as characteristic CPT II deficiency profile.

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