Myopathy as the Initial Manifestation of Primary Amyloidosis

Keith, Julia; Afshar-Ghotli, Z.; Roussev, R.; Ernst, BP; Young, Beverley; Bilbao, Jorge

doi:10.1017/s0317167100011240

Cited by 3 publications

(3 citation statements)

References 13 publications

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“…In retrospect, the clinical finding of hip flexor greater than knee extensor weakness was atypical for IBM. Predominant proximal weakness and isolated hip flexor weakness has been reported previously with amyloid myopathy [9][10][11] . The early features suggestive of amyloidosis were the presence of a light chain monoclonal gammopathy, urine light chains and recurrent pedal edema.…”

Section: Discussionsupporting

confidence: 52%

Amyloid Myoneuropathy Mimicking Inclusion Body Myositis

Abuzinadah

Joseph

2013

Can. J. Neurol. Sci.

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Inclusion body myositis (IBM) is a slowly progressive myopathy affecting proximal and distal musculature with typical onset of symptoms after age 50 years. Inclusion body myositis more often affects males and results in a classical pattern of early asymmetric weakness and wasting of forearm flexors (wrist and long finger flexors), quadriceps and ankle dorsiflexors. Inclusion body myositis is more frequently associated with a monoclonal gammopathy than is seen in the general population but the implications of this association remain unclear 1. Importantly, there is no available therapy to slow disease progression in IBM. Primary systemic amyloidosis (AL) typically results in light chain deposition in the tongue, kidneys, heart, liver, spleen and peripheral nerves with accompanying respective clinical sequelae. Rarely, light chain deposition can focally involve components of the nervous system. Peripheral nerve complications include carpal tunnel syndrome, dysautonomia and polyneuropathy 2,3. Amyloid myopathy is rare and typically demonstrates proximal muscle involvement and electrophysiological findings indistinguishable from the inflammatory myopathies 4. Prompt differentiation of amyloid myopathy from the inflammatory myopathies is essential as AL may respond to chemotherapy resulting in improved progression free survival 5. We report a case of AL presenting with predominant myopathy clinically suggestive of IBM and with similar findings on initial muscle biopsy, an important distinction in light of recent treatment advances in AL. CASE REPORT A 59-year-old right-handed man was referred to the Calgary Neuromuscular Clinic for progressive weakness over five years. He described left knee "give-way" while skiing as his initial complaint. Over time, he noticed increasing difficulty to keep up with others while walking. Ascending stairs became more challenging and his legs would give away intermittently. He denied symptoms of foot drop or proximal limb weakness. Gradually he noticed progressive bilateral hand grip weakness associated with dropping of items. He was still able to button up clothing and use a zipper. Over the past year he observed that his ability to reach up with his hands became more difficult and that food would stick in his throat without choking. Since the onset of weakness the patient described shortness of breath on exertion, and more recently, orthopnea but no morning headache. The patient did not have any cognitive complaints, rash, sensory symptoms, pain, diplopia or ptosis. His past medical history and family history were non-contributing to his final diagnosis. On examination cardiac, abdominal and respiratory examinations were normal. Mental status, language testing and THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

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Section: Discussionsupporting

confidence: 52%

Amyloid Myoneuropathy Mimicking Inclusion Body Myositis

Abuzinadah

Joseph

2013

Can. J. Neurol. Sci.

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“…Amyloidosis related myopathy is commonly associated with the primary (AL) type of systemic amyloidosis, with multiple myeloma being the most frequent underlying etiology [1,2,5,6]. The most frequent clinical manifestations are an increase in muscle volume (pseudohypertrophy) due to the amyloid infiltration, muscle weakness (paresis), arthropathy and osteopathy [6,8]. The clinical presentations can simulate rheumatological diseases such as rheumatoid arthritis and rheumatic polymyalgia.…”

Section: Discussionmentioning

confidence: 99%

Clinical Clues to Diagnose Amyloidosis

Gismondi¹,

Azevedo²,

Lopes³

et al. 2019

JCR

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Background: Amyloidosis is a rare systemic disease characterized by the deposition of an insoluble protein, amyloid, in various tissues and organs. The disease is more prevalent in the elderly and can affect any organ, including the kidneys, heart, muscles or skin. Furthermore, clinical manifestations may be easily identified during a physical examination and serve as a clue to the diagnosing amyloidosis as well as its etiology. Case Report: The present paper describes the case of an elderly man presenting with macroglossia, "shoulder pad" sign and periorbital ecchymosis. A presumptive diagnosis of amyloidosis in its primary form was made by the attending physician. Afterwards, bone marrow biopsy confirmed multiple myeloma as the underlying cause and the patient was treated with chemotherapy. Conclusion: Macroglossia, "shoulder pad" and periorbital ecchymosis are important physical examination clues to diagnosis and etiology of amyloidosis.

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“…Many studies show significant relations between amyloidosis and myopathy including causal relations (i.e. amyloidosis causes myopathy) [118], [119], [120], [121], [122], [123]. Indeed, myopathy is diagnosed with muscle biopsy by identifying amyloidosis.…”

Section: Constructing Disease Networkmentioning

confidence: 99%

A New Semantic Functional Similarity over Gene Ontology

Jeong

Chen

2015

IEEE/ACM Trans. Comput. Biol. and Bioinf.

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Identifying functionally similar or closely related genes and gene products has significant impacts on biological and clinical studies as well as drug discovery. In this paper, we propose an effective and practically useful method measuring both gene and gene product similarity by integrating the topology of gene ontology, known functional domains and their functional annotations. The proposed method is comprehensively evaluated through statistical analysis of the similarities derived from sequence, structure and phylogenetic profiles, and clustering analysis of disease genes clusters. Our results show that the proposed method clearly outperforms other conventional methods. Furthermore, literature analysis also reveals that the proposed method is both statistically and biologically promising for identifying functionally similar genes or gene products. In particular, we demonstrate that the proposed functional similarity metric is capable of discoverying new disease related genes or gene products.

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Myopathy as the Initial Manifestation of Primary Amyloidosis

Cited by 3 publications

References 13 publications

Amyloid Myoneuropathy Mimicking Inclusion Body Myositis

Amyloid Myoneuropathy Mimicking Inclusion Body Myositis

Clinical Clues to Diagnose Amyloidosis

A New Semantic Functional Similarity over Gene Ontology

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