Respiratory treatment in a patient with nemaline myopathy.

Massimiliano Polastri,Gioacchino Schifino,Eva Tonveronachi,Francesco Tavalazzi

doi:10.4081/cp.2019.1209

Massimiliano Polastri, Gioacchino Schifino + Show 2 more

Open Access

https://doi.org/10.4081/cp.2019.1209

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Abstract

Respiratory involvement of nemaline myopathy is evident on the diaphragm and intercostal muscles function. The present case study aimed to describe the characteristics of the respiratory physiotherapeutic treatment in a patient with nemaline myopathy. Here, we describe a case of a 43-yearold woman with nemaline myopathy undergoing pulmonary rehabilitation during short hospital admission for an acute exacerbation. At the time of hospitalisation, the patient was already under oxygen therapy (1 L/min) and noninvasive home ventilation using bi-level positive airway pressure with a nasal interface. Supplementary therapeutic exercises were implemented in addition to daily nasal noninvasive ventilation. At discharge, ultrasound examination revealed increased diaphragm trophism if compared with data obtained at hospital admission.

Highlights

Nemaline myopathy (NM) is a congenital disease characterised by the presence of malformed contractile filaments in the musinspiratory positive airway pressure (IPAP)18 cmH2O; expiratory positive airway pressure (EPAP) 3 cmH2O; frequency 12 breaths/min; TImin 0.6 s; TImax 1.4 s, with nasal interface
Diaphragm thickness fraction was calculated as follow: Delta (Δ) thickness (TK) = [TK at (*) total lung capacity (TLC) – TK* functional residual capacity (FRC) / TK*FRC] namely, ΔTK = (TK*TLC–TK*FRC) / TK*FRC
Patients with NM may be affected by arthrogryposis as reported in a study of 143 cases;[14] in the present case, the patient’s symptoms were mainly related to the respiratory system and the musculoskeletal apparatus

Summary

Respiratory treatment in a patient with nemaline myopathy

Massimiliano Polastri,[1] Gioacchino Schifino,[2] contractures and articular deformations are usually present.[2] In preparing this case report, we followed the CARE criteria.[6] To date, no report has been published about the short-term effect of respiratory physiotherapeutic treatment, in patients with NM

Here we describe a case of a woman

Introduction

Noninvasive ventilation

Previous reports described the use of a

Discussion

References ure due to diaphragmatic paralysis and