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Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?

Hazenberg A, van Alfen N, Voet NB, Kerstjens HA, Wijkstra PJ - Respir Med Case Rep (2014)

Bottom Line: His sleep improved after starting non-invasive ventilation and his daytime sleepiness disappeared.We conclude that in patients with FSHD who have symptoms of nocturnal hypoventilation, an adequate assessment of the diaphragm is recommended.This is of great importance as we know that nocturnal hypoventilation can be treated effectively by non-invasive ventilation.

View Article: PubMed Central - PubMed

Affiliation: University of Groningen, University Medical Center Groningen, Department of Pulmonology and Tuberculosis, Department of Home Mechanical Ventilation, Groningen, The Netherlands ; University of Groningen, University Medical Center Groningen, GRIAC Research Institute, The Netherlands.

ABSTRACT

Introduction: We present a case of facioscapulohumeral muscular dystrophy (FSHD) with a diaphragm paralysis as the primary cause of ventilatory failure. FSHD is an autosomal dominant inherited disorder with a restricted pattern of weakness. Although respiratory weakness is a relatively unknown in FSHD, it is not uncommon.

Methods: We report on the clinical findings of a 68-year old male who presented with severe dyspnea while supine.

Results: Supplementing our clinical findings with laboratory, electrophysiological and radiological performances led to the diagnosis of diaphragm paralysis. Arterial blood gas in sitting position without supplemental oxygen showed a mild hypercapnia. His sleep improved after starting non-invasive ventilation and his daytime sleepiness disappeared.

Discussion: We conclude that in patients with FSHD who have symptoms of nocturnal hypoventilation, an adequate assessment of the diaphragm is recommended. This is of great importance as we know that nocturnal hypoventilation can be treated effectively by non-invasive ventilation.

No MeSH data available.


Related in: MedlinePlus

Nocturnal transcutaneous registration of carbon dioxide (mean 7.8 kPa) and oxygen saturation (mean 91%) before starting ventilation.
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fig1: Nocturnal transcutaneous registration of carbon dioxide (mean 7.8 kPa) and oxygen saturation (mean 91%) before starting ventilation.

Mentions: On physical examination, his weight was 97 kg, length 1.79 m, Body Mass index 29.7 kg/m2. He could not lift his arms above shoulder height. There was atrophy and muscle weakness of proximal as well as distal upper and lower extremities, back and abdominal muscles, but no signs of scoliosis. The Ricci score for clinical severity of FSHD was 3 [3]. Resting heart rate: 70 beats/minute and resting respiratory rate 18 breaths/minute. In supine position there was paradoxical abdominal breathing and his respiratory rate increased. Arterial blood gas in sitting position without supplemental oxygen: acidity level (pH) 7.41, partial pressure of arterial carbon dioxide (paCO2) 6.1 kilopascal (kPa), partial pressure of oxygen (paO2) 9.7 kPa, bicarbonate (HCO3) 28.6 mmol/l, oxygen-saturation 95%. Nocturnal registration with the Tosca® transcutaneous monitor, before starting the chronic ventilatory support, showed a mean transcutaneous carbon dioxide (tcpCO2) of 7.8 kPa (4–6 kPa is normal) and a mean oxygen saturation (SpO2) of 91% (>92% is normal) [7]. The lowest saturation was 65% (Fig. 1).


Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?

Hazenberg A, van Alfen N, Voet NB, Kerstjens HA, Wijkstra PJ - Respir Med Case Rep (2014)

Nocturnal transcutaneous registration of carbon dioxide (mean 7.8 kPa) and oxygen saturation (mean 91%) before starting ventilation.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4356051&req=5

fig1: Nocturnal transcutaneous registration of carbon dioxide (mean 7.8 kPa) and oxygen saturation (mean 91%) before starting ventilation.
Mentions: On physical examination, his weight was 97 kg, length 1.79 m, Body Mass index 29.7 kg/m2. He could not lift his arms above shoulder height. There was atrophy and muscle weakness of proximal as well as distal upper and lower extremities, back and abdominal muscles, but no signs of scoliosis. The Ricci score for clinical severity of FSHD was 3 [3]. Resting heart rate: 70 beats/minute and resting respiratory rate 18 breaths/minute. In supine position there was paradoxical abdominal breathing and his respiratory rate increased. Arterial blood gas in sitting position without supplemental oxygen: acidity level (pH) 7.41, partial pressure of arterial carbon dioxide (paCO2) 6.1 kilopascal (kPa), partial pressure of oxygen (paO2) 9.7 kPa, bicarbonate (HCO3) 28.6 mmol/l, oxygen-saturation 95%. Nocturnal registration with the Tosca® transcutaneous monitor, before starting the chronic ventilatory support, showed a mean transcutaneous carbon dioxide (tcpCO2) of 7.8 kPa (4–6 kPa is normal) and a mean oxygen saturation (SpO2) of 91% (>92% is normal) [7]. The lowest saturation was 65% (Fig. 1).

Bottom Line: His sleep improved after starting non-invasive ventilation and his daytime sleepiness disappeared.We conclude that in patients with FSHD who have symptoms of nocturnal hypoventilation, an adequate assessment of the diaphragm is recommended.This is of great importance as we know that nocturnal hypoventilation can be treated effectively by non-invasive ventilation.

View Article: PubMed Central - PubMed

Affiliation: University of Groningen, University Medical Center Groningen, Department of Pulmonology and Tuberculosis, Department of Home Mechanical Ventilation, Groningen, The Netherlands ; University of Groningen, University Medical Center Groningen, GRIAC Research Institute, The Netherlands.

ABSTRACT

Introduction: We present a case of facioscapulohumeral muscular dystrophy (FSHD) with a diaphragm paralysis as the primary cause of ventilatory failure. FSHD is an autosomal dominant inherited disorder with a restricted pattern of weakness. Although respiratory weakness is a relatively unknown in FSHD, it is not uncommon.

Methods: We report on the clinical findings of a 68-year old male who presented with severe dyspnea while supine.

Results: Supplementing our clinical findings with laboratory, electrophysiological and radiological performances led to the diagnosis of diaphragm paralysis. Arterial blood gas in sitting position without supplemental oxygen showed a mild hypercapnia. His sleep improved after starting non-invasive ventilation and his daytime sleepiness disappeared.

Discussion: We conclude that in patients with FSHD who have symptoms of nocturnal hypoventilation, an adequate assessment of the diaphragm is recommended. This is of great importance as we know that nocturnal hypoventilation can be treated effectively by non-invasive ventilation.

No MeSH data available.


Related in: MedlinePlus