Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027121 (myositis)
4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical diagnosis of a 34-year-old man was muscular dystrophy of the ascending limb-girdle type. There were no detectable signs of myotonia. Histological and biochemical investigations confirmed an acid maltase deficiency (AMD). Electromyography demonstrated a myopathic pattern, fibrillation potentials, normal nerve conduction velocity, and so-called pseudomyotonic or bizarre high frequency discharges. In the literature this EMG activity has been described as characteristic for AMD. But it seems to be a nonspecific EMG sign, which occurs in myogenic and neurogenic lesions such as myositis, metabolic and dystrophic myopathy, nuclear damage, radiculopathy, and neuropathy. It is therefore of little diagnostic value.
...
PMID:[High frequency discharges as a non-specific EMG activity in adult acid maltase deficiency (author's transl)]. 693 Jan 99

Calf hypertrophy is a typical clinical feature in neuromuscular diseases such as X-linked muscular dystrophies of Duchenne and Becker type and can be seen as an atypical feature in numerous other diseases. The diagnosis of calf hypertrophy usually is based on subjective visual assessment. The aim of this prospective study was to examine the prevalence of calf hypertrophy in a large number of patients with various neuromuscular diseases based on quantitative ultrasound measurement of calf muscle thickness. Additionally, true and pseudohypertrophy should be distinguished according to the absence or presence of abnormal muscle echointensities caused by infiltration of fat tissue. Fifty adult normal controls and 350 patients with various neuromuscular diseases were investigated. Absolute calf hypertrophy was diagnosed if the combined thickness of the gastrocnemius and soleus muscles exceeded the mean value of the control persons by at least 3.0 standard deviations (SD). Relative calf hypertrophy was diagnosed when the ratio of the combined thicknesses of the gastrocnemius and soleus muscles divided by the combined thicknesses of the rectus femoris and vastus intermedius muscles lay at least 3.0 SD below the mean value of the controls. Pseudohypertrophy was present if the echointensities of the gastrocnemius and soleus muscles reached or exceeded 3.0 SD above the mean value of the controls. An absolute hypertrophy of the calves was detected in 80 patients (= 22,9%; 64 true and 16 pseudohypertrophies), 16 patients exhibited a relative hypertrophy of the calves (= 4.6%; 12 true and 4 pseudohypertrophies). A significantly increased portion of both absolute calf hypertrophies and pseudohypertrophies as compared to the control group were found in juvenile proximal spinal muscular atrophy type 3, central core disease, centronuclear myopathy, benign X-linked muscular dystrophy of Becker type, autosomal recessive limb girdle muscular dystrophy, acid maltase deficiency, polymyositis, and granulomatous myositis. A significantly increased number of relative calf hypertrophies was present in juvenile proximal spinal muscular atrophy type 3, facioscapulohumeral muscular dystrophy, and inclusion body myositis. In the majority of the diseases included in the study, calf hypertrophy occurred in at least some patients. In conclusion, calf hypertrophy is a frequent and unspecific clinical feature in many neuromuscular diseases. Ultrasound is a convenient method for the exact definition of calf hypertrophy.
...
PMID:Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature. 898 Dec 97

Symptomatic macroglossia occurs in some rare congenital muscle diseases, such as Becker's and Duchenne's dystrophies or Pompe's disease. Herein we describe a case of symptomatic macroglossia with myositis of the tongue occurring in a patient with polymyositis. Tongue myositis was evidenced by dysarthria, frequent biting during mastication, swallowing difficulties without aspiration, and noisy breathing. Magnetic resonance imaging showed homogeneous hypertrophy of the tongue, especially the mouth's floor muscles. The diagnosis of tongue myositis was established by electromyography and biopsy. No other cause for the macroglossia was found. Symptoms resolved quickly with corticosteroid and intravenous immunoglobulin treatment. To our knowledge, this is the first reported case of symptomatic tongue myositis occurring in the course of polymyositis.
...
PMID:Symptomatic macroglossia and tongue myositis in polymyositis: treatment with corticosteroids and intravenous immunoglobulin. 1238 36