Muscle diseases: mimics and chameleons

Walters, R. J.

doi:10.1136/practneurol-2014-000878

Cited by 9 publications

(8 citation statements)

References 36 publications

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“…The second group includes patients affected by muscle weakness, predominantly proximal, possibly accompanied by atrophy without other signs of amyloid tissue deposition. The “atrophic form” represents a clinical challenge because the diagnosis is difficult and should take into account all possible differential diagnoses of myopathy [ 12 ]. The third group is a mixed clinical phenotype.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis

Accardi

Papa

Capozzi

et al. 2018

Case Reports in Hematology

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Muscle involvement in AL amyloidosis is a rare condition, and the diagnosis of amyloid myopathy is often delayed and underdiagnosed. Amyloid myopathy may be the initial manifestation and may precede the diagnosis of systemic AL amyloidosis. Here, we report the case of a 73-year-old man who was referred to our center for a monoclonal gammopathy of undetermined significance (MGUS) diagnosed since 1999. He reported a progressive weakness of proximal muscles of the legs with onset six months previously. Muscle biopsy showed mild histopathology featuring alterations of nonspecific type with a mixed myopathic and neurogenic involvement, and the diagnostic turning point was the demonstration of characteristic green birefringence under cross-polarized light following Congo red staining of perimysial vessels. Transmission electron microscopy (TEM) confirmed amyloid fibrils around perimysial vessels associated with collagen fibrils. A stepwise approach to diagnosis and staging of this disorder is critical and involves confirmation of amyloid deposition, identification of the fibril type, assessment of underlying amyloidogenic disorder, and evaluation of the extent and severity of amyloidotic organ involvement.

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Section: Discussionmentioning

confidence: 99%

A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis

Accardi

Papa

Capozzi

et al. 2018

Case Reports in Hematology

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“…Myotonic dystrophy type 1 patients often have respiratory and oropharyngeal muscle weakness with increased sensitivity to various respiratory depressants, including opiates. Postoperative complications are common; about 1 in 10 surgeries with general anaesthesia are complicated by respiratory problems, including prolonged respiratory depression, particularly following cholecystectomy 39 40…”

Section: Introductionmentioning

confidence: 99%

Weakness in the intensive care unit

Walters

2022

Pract Neurol

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When asked to assess patients in an intensive care unit (ICU) who have respiratory muscle weakness, oropharyngeal weakness and a vulnerable airway, our immediate thought may be of Guillain-Barré syndrome or myasthenia gravis, but there are many other possible causes. For example, previously unrecognised chronic neurological conditions may decompensate and require ICU admission. Clinicians can use various clinical clues to help recognise them and need to understand how patterns of weakness reflect differing causes of reduced consciousness on ICU. Additionally, patients admitted to ICU for any reason may develop weakness during their stay, the most likely cause being ICU-acquired weakness. Assessing patients in ICU is challenging, hampered by physical barriers (machines, tubes), medication barriers (sedatives) and cognitive barriers (delirium, difficulty communicating). Nonetheless, we need to reach a clinical diagnosis, organise appropriate tests and communicate clearly with both patients and ICU colleagues.

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“…There are many clues to help to distinguish between an acquired myopathy and genetic disorder, see further reading. 3 5–7…”

Section: Introductionmentioning

confidence: 99%

“…Generally, in a patient with a likely genetic cause for limb-girdle weakness, especially with pseudohypertrophy and raised serum creatine kinase, we request a dried blood spot test for α-glucosidase, and genetic testing for dystrophinopathy and LGMD2I, before a muscle biopsy. 5 6 8 The clinical rules distinguishing genetic and acquired myopathies are robust but fallible, one reason to favour biopsy at this point.…”

Section: Introductionmentioning

confidence: 99%

Muscle biopsy: what and why and when?

Walters

Baborie

2020

Pract Neurol

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Skeletal muscle biopsy remains an important investigative tool in the diagnosis of a variety of muscle disorders. Traditionally, someone with a limb-girdle muscle weakness, myopathic changes on electrophysiology and raised serum creatine kinase (CK) would have a muscle biopsy. However, we are living through a genetics revolution, and so do all such patients still need a biopsy? When should we undertake a muscle biopsy in patients with a distal, scapuloperoneal or other patterns of muscle weakness? When should patients with myositis, rhabdomyolysis, myalgia, hyperCKaemia or a drug-related myopathy have a muscle biopsy? What does normal muscle histology look like and what changes occur in neurogenic and myopathic disorders? As with Kipling’s six honest serving men, we hope that by addressing these issues we can all become more confident about when to request a muscle biopsy and develop clearer insights into muscle pathology.

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Muscle diseases: mimics and chameleons

Cited by 9 publications

References 36 publications

A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis

A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis

Weakness in the intensive care unit

Muscle biopsy: what and why and when?

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