Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 41-year old caucasian male presented with limited range of motion of the entire spine and myogenous intermittent claudication. He was referred with the diagnosis "ankylosing spondylitis". The clinical picture mimicked ankylosing spondylitis, but there were no corresponding radiological abnormalities despite a 13-year history of his disease. Laboratory values showed markedly elevated levels of muscle enzymes. The diagnosis of rigid spine syndrome, a subtype of muscular dystrophy, was made from the clinical picture a normal EMG and degenerative changes on a biopsy from the muscle trapezius. We would like to draw attention to this rare cause of back pain.
 ...
PMID:[Possible diagnostic error of "Bechterew disease"]. 904 30

In this report we present three patients who had complaints primarily related to joints and flexibility. Two had no specific diagnosis and one was thought to have ankylosing spondylitis. Extensive evaluation revealed Emery-Dreifuss muscular dystrophy (EDMD) in all. EDMD is a muscular dystrophy where joint contractures and spinal limitation occur before any overt muscle weakness, and the syndrome may be combined with serious cardiac pathology. We wish to call the attention of professionals involved in rheumatology and physical medicine to the existence of this syndrome, which may only present with joint contractures and spinal limitation but which may end with fatal cardiac problems if not diagnosed in time.
 ...
PMID:Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures. 1467 28

The diagnosis of juvenile spondyloarthritis (JSA) is rarely entertained in young children who present with back and leg pain. We present a case of a 6-year-old male who presented with a 3-year history of severe back and leg pain and a positive Gower's sign, and was given a presumed diagnosis of muscular dystrophy. Presenting serologic evaluation included a mildly elevated sedimentation rate and C-reactive protein (CRP). Computed tomography of the pelvis demonstrated large erosions affecting both sacro-iliac joints. Despite the unusually young age of this patient, ankylosing spondylitis seemed the most plausible diagnosis. Following rheumatological evaluation and treatment for JSA, he showed significant clinical improvement. His disease, however, has not entirely remitted with signs of enthesitis at the Achilles tendon and knees. We present this case to illustrate that JSA could account for symptoms at an early age and not considering it could lead to multiple medical visits and diagnoses. To our knowledge, based on a search of the World literature, this would appear to be the youngest case of JSA reported with demonstrable severe sacroiliitis.
 ...
PMID:Spondyloarthropathy presenting at a young age: case report and review. 1671 45

In this society with an ever increasing number of the elderly there is an increasing number of causes of a bent spine syndrome (camptocormia/dropped head syndrome). The causes include neurological, neuro-orthopedic, rheumatological and psychiatric disorders. Parkinson's disease, dystonia and neuromuscular diseases (motor neuron disease, myositis and muscular dystrophy) with weakness of the axial muscles may result in bent spine syndrome and is often combined with a dropped head. Disc herniation, hypertrophic spondylosis or pseudospondylolisthesis with spinal narrowing may lead to an abnormal flexion of the trunk. Ankylosing spondylitis can produce a disabling bent spine syndrome. Camptocormia may also be mimicked by osteoporotic fractures of the vertebral bones with wedge-shaped vertebrae. In some cases camptocormia is related to a psychogenic disorder.
...
PMID:[Causes of camptocormia]. 2390 96