XMPMA: acute on chronic ventilatory failure managed successfully with non-invasive ventilation

Avram, CA; Angus, Robert; Ford, Verity; Ward, Karen; Parker, R. S.

doi:10.1258/shorts.2011.011096

Cited by 2 publications

(3 citation statements)

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“…However, lower limb involvement was more prominent in MFM patients. Respiratory involvement can be the main symptom at onset, especially in association with TTN , desmin ( DES ), filamin C ( FLNC ), and 4‐and‐a‐half limb domain ( FHL1 ) mutations . In particular, mutations in the FN3 domain of TTN cause hereditary myopathy with early respiratory failure (HMERF), as seen in patient 8.…”

Section: Discussionmentioning

confidence: 99%

“…Respiratory involvement can be the main symptom at onset, especially in association with TTN, desmin (DES), filamin C (FLNC), and 4-and-a-half limb domain (FHL1) mutations. [15][16][17][18][19][20] In particular, mutations in the FN3 domain of TTN cause hereditary myopathy with early respiratory failure (HMERF), 21,22 as seen in patient 8. Muscle biopsy in HMERF can show the full spectrum of myofibrillar pathology or only rimmed vacuoles or cytoplasmic bodies (pleomorphic, eosinophilic inclusion bodies).…”

Section: Discussionmentioning

confidence: 99%

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Hereditary myopathies with early respiratory insufficiency in adults

Naddaf

Milone

2017

Muscle and Nerve

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Hereditary myopathies with early respiratory insufficiency in adults

Naddaf

Milone

2017

Muscle and Nerve

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“…FHL1 mutations can also present with the clinical and pathological features of MFM [91]. Amongst these phenotypes, XMPMA has been reported to have respiratory failure in ambulant patients [92,93] and should be considered in adult-onset muscle disease having atrophy of postural muscles and hypertrophy of muscles with predominance of type II muscle fibres [93].…”

Section: Inherited Muscle Diseasesmentioning

confidence: 99%

Diagnosis of muscle diseases presenting with early respiratory failure

et al. 2014

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Here we describe a clinical approach and differential diagnosis for chronic muscle diseases which include early respiratory failure as a prominent feature in their presentation (i.e. respiratory failure whilst still ambulant). These patients typically present to neurology or respiratory medicine out-patient clinics and a distinct differential diagnosis of neuromuscular aetiologies should be considered. Amyotrophic lateral sclerosis and myasthenia gravis are the important non-muscle diseases to consider, but once these have been excluded there remains a challenging differential diagnosis of muscle conditions, which will be the focus of this review. The key points in the diagnosis of these disorders are being aware of relevant symptoms, which are initially caused by nocturnal hypoventilation or diaphragmatic weakness; and identifying other features which direct further investigation. Important muscle diseases to identify, because their diagnosis has disease-specific management implications, include adult-onset Pompe disease, inflammatory myopathy, and sporadic adult-onset nemaline myopathy. Cases which are due to metabolic myopathy or muscular dystrophy are important to diagnose because of their implications for genetic counselling. Myopathy from sarcoidosis and colchicine each has a single reported case with this presentation, but should be considered because they are treatable. Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation. Recently described syndromes include oculopharyngodistal muscular dystrophy that awaits genetic characterisation.

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XMPMA: acute on chronic ventilatory failure managed successfully with non-invasive ventilation

Cited by 2 publications

References 4 publications

Hereditary myopathies with early respiratory insufficiency in adults

Hereditary myopathies with early respiratory insufficiency in adults

Diagnosis of muscle diseases presenting with early respiratory failure

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