Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset

1992 ◽  
Vol 239 (6) ◽  
pp. 355-356 ◽  
Author(s):  
G. Piccolo ◽  
E. Marchioni ◽  
M. Maurelli ◽  
F. Simonetti ◽  
F. Bizzetti ◽  
...  
Keyword(s):  
Respiratory Muscle ◽  
Late Onset ◽  
Sporadic Case

scholarly journals Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

2016 ◽  
Vol 17 (10) ◽  
pp. 1735 ◽  
Author(s):  
Matthias Boentert ◽  
Hélène Prigent ◽  
Katalin Várdi ◽  
Harrison Jones ◽  
Uwe Mellies ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Pompe Disease ◽  
Respiratory Muscle ◽  
Late Onset ◽  
Respiratory Muscle Weakness ◽  
Diagnosis And Management ◽  
Practical Recommendations

scholarly journals Dynamic respiratory muscle function in late-onset Pompe disease

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Barbara K. Smith ◽  
Shannon Allen ◽  
Samantha Mays ◽  
A. Daniel Martin ◽  
Barry J. Byrne
Keyword(s):  
Pompe Disease ◽  
Respiratory Muscle ◽  
Late Onset ◽  
Pulmonary Function Tests ◽  
Load Compensation ◽  
Single Breath ◽  
Muscle Adaptations ◽  
Endurance Testing ◽  
Chest Wall Kinematics ◽  
Breathing Endurance

AbstractMaximal inspiratory pressure (PIMAX) reflects inspiratory weakness in late-onset Pompe disease (LOPD). However, static pressure tests may not reveal specific respiratory muscle adaptations to disruptions in breathing. We hypothesized that dynamic respiratory muscle functional tests reflect distinct ventilatory compensations in LOPD. We evaluated LOPD (n = 7) and healthy controls (CON, n = 7) during pulmonary function tests, inspiratory endurance testing, dynamic kinematic MRI of the thorax, and ventilatory adjustments to single-breath inspiratory loads (inspiratory load compensation, ILC). We observed significantly lower static and dynamic respiratory function in LOPD. PIMAX, spirometry, endurance time, and maximal diaphragm descent were significantly correlated. During single-breath inspiratory loads, inspiratory time and airflow acceleration increased to preserve volume, and in LOPD, the response magnitudes correlated to maximal chest wall kinematics. The results indicate that changes in diaphragmatic motor function and strength among LOPD subjects could be detected through dynamic respiratory testing. We concluded that neuromuscular function significantly influenced breathing endurance, timing and loading compensations.

scholarly journals Anaesthetic Management of Two Patients with Pompe Disease for Caesarean Section

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
I. J. J. Dons-Sinke ◽  
M. Dirckx ◽  
G. P. Scoones
Keyword(s):  
Case Report ◽  
Caesarean Section ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Muscle Function ◽  
Respiratory Muscle ◽  
Late Onset ◽  
Anaesthetic Management ◽  
Enzyme Replacement

The introduction of enzyme replacement therapy and the resultant stabilisation or improvement in mobility and respiratory muscle function afforded to patients with late-onset Pompe may lead to an increased number of Pompe patients prepared to accept the challenges of parenthood. In this case report, we describe our anaesthetic management of two patients with Pompe disease for a caesarean section.

scholarly journals A SPORADIC CASE OF ERYTHROKERATODERMIA VARIABILIS IN AN ADULT

2019 ◽  
pp. 1-2
Author(s):  
Anupama Wahengbam
Keyword(s):  
Late Onset ◽  
Sporadic Case ◽  
Diverse Group

Erythrokeratoderma are diverse group of genodermatosis affecting keratinization under which, Erythrokeratodermia Variabilis ( EKV) was first described in 1925 by Mendes da Costa. Our patient is a 48 year old male presenting clinically with EKV Mendes Da Costa, hyperkeratotic subtype with the histopathology supportive of the diagnosis. We are reporting for its rarity and due to its late onset in our patient and also for the sporadic nature of this particular case of EKV.

scholarly journals Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
David Reyes-Leiva ◽  
Jorge Alonso-Pérez ◽  
Mercedes Mayos ◽  
Claudia Nuñez-Peralta ◽  
Jaume Llauger ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Muscle Function ◽  
Respiratory Muscle ◽  
Late Onset ◽  
Respiratory Support ◽  
Fat Replacement ◽  
Function Tests ◽  
Fat Fraction ◽  
Muscle Groups ◽  
Over Time

Objectives: Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal muscles of late-onset Pompe disease (LOPD) patients. Previous studies have shown that replacement by fat correlates with worse results of muscle function tests. Our aim was to investigate if fat replacement of muscles involved in the ventilation process correlated with results of the spirometry and predicted respiratory muscle impairment in LOPD patients over time.Materials and Methods: We studied a cohort of 36 LOPD patients followed up annually in our center for a period of 4 years. We quantified muscle fat replacement using Mercuri score of the thoracic paraspinal and abdominal muscles and the pillars of the diaphragm. We correlated the combined Mercuri scores of these areas with spirometry results and the need of respiratory support.Results: We found a statistically significant correlation (Spearman test, p < 0.05; coefficient of correlation > 0.6) between forced vital capacity seated and lying and fat fraction score of all muscle groups studied. The group of patients who needed respiratory support had higher fat fraction scores than patients not requiring ventilatory support. Higher fat replacement in these areas correlated with worse progression in spirometry values over time.Conclusions: Fat replacement of paraspinal, abdominal, and trunk muscles correlates with results of spirometry and is able to predict worsening in respiratory muscle function tests that could lead to an emerging ventilatory dysfunction. Therefore, the identification of fat replacement in these muscle groups should lead to a closer monitorization of patients. Radiologic evaluation of diaphragm pillars in T1-weighted imaging axial sequences could also be helpful to predict respiratory insufficiency.

A sporadic case of late-onset familial amyloid polyneuropathy with Bence-Jones proteinuria

1999 ◽  
Vol 246 (8) ◽  
pp. 726-727 ◽  
Author(s):  
M. Yamada ◽  
A. Nonaka ◽  
T. Kamata ◽  
T. Furuya ◽  
H. Mizusawa
Keyword(s):  
Late Onset ◽  
Sporadic Case ◽  
Familial Amyloid Polyneuropathy ◽  
Amyloid Polyneuropathy ◽  
Bence Jones Proteinuria
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