hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...

The nucleic acid binding protein TDP-43 was recently identified in normal myonuclei and in the sarcoplasm of inclusion body myositis (IBM) muscle. Here we found TDP-43 sarcoplasmic immunoreactivity in 23% of IBM myofibers, while other reported IBM biomarkers were less frequent, with rimmed vacuoles in 2.8%, fluorescent Congo red material in 0.57%, SMI-31 immunoreactivity in 0.83%, and focal R12...

All the diagnostic muscle biopsy cases were collected from the file of Department of Pathology, Seoul National University Hospital during June 1976 to December 1978. Slides were reviewed and correlated with clinical informations. Two hundred seventy four cases showed pathological changes, which were classified into six large groups (Table 1). Neurogenic atrophy was most common, 97 cases (35%), ...

Dermatomyositis is an inflammatory myopathy with the characteristic features of skin rash and myopathy. We here present a known case of dermatomyositis evaluated with 18F-FDG PET/CT for the presence of any occult malignancy. The scan was negative for the presence of any malignancy. However, it revealed multiple intensely FDG avid colonic strictures that were later proven on colonoscopic biopsy ...

Dermatomyositis is an inflammatory myopathy of unknown aetiology. Muscle involvement may eventuate later in the disease course in some patients, who may present with typical skin disease without clinical signs of myopathy and are referred to as dermatomyositis sine myositis. A 48 year old female presented with intermittent urticaria like rashes, diffuse asymmetrical swelling of proximal limbs, ...

by Edward C. Smith, MD, and Dwight D. Koeberl, MD, PhD The rheumatologist is frequently called upon to evaluate patients with complaints of myalgia, muscle cramping, and fatigue. Because these symptoms may be nonspecific and lack any clear temporal or anatomic pattern, their workup may entail costly and uninformative tests. When similar symptoms emerge during or following physical exertion, a m...

A newly acquired neuromuscular cause of weakness has been found in 25-85% of critically ill patients. Three distinct entities have been identified: (1) critical illness polyneuropathy (CIP); (2) acute myopathy of intensive care (itself with three subtypes); and (3) a syndrome with features of both 1 and 2 (called critical illness myopathy and/or neuropathy or CRIMYNE). CIP is primarily a distal...

Myopathy, including muscle weakness, is not rare in patients with thyrotoxicosis ( 1 ). While the precise mechanism of the myopathy associated with Graves' disease is not known, several hypotheses are reported. Some patients show myoskeletal disorders from an autoimmune mechanism. One of the most important states is disorder of neuromuscular junction, observed in the patients with myasthenia gr...