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Bertolotti's syndrome is a commonly missed cause of back pain which occurs due to lumbosacral transitional vertebrae (LSTV). It is a congenital condition but is not usually symptomatic until one's later twenties or early thirties. [1] However, there are a few cases of Bertolotti's that become symptomatic at a much earlier age.
Sprengel's deformity (also known as high scapula, scapular hypoplasia, or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to ...
The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. Cold arms, hands, and feet can also be linked to MFS because of inadequate circulation.
The right shoulder and arm muscles are more often affected than the left upper extremity muscles, a pattern also seen in Poland syndrome and hereditary neuralgic amyotrophy; this could reflect a genetic, developmental/anatomic, or functional-related mechanism.
Shoulder impingement syndrome is a syndrome involving tendonitis (inflammation of tendons) of the rotator cuff muscles as they pass through the subacromial space, the passage beneath the acromion. It is particularly associated with tendonitis of the supraspinatus muscle . [ 1 ]
In some, the x-ray findings may correspond to symptoms of back stiffness with flexion/extension or with mild back pain. [2] Back pain or stiffness may be worse in the morning. [ 4 ] Rarely, large anterior cervical spine osteophytes may affect the esophagus or the larynx and cause pain , difficulty swallowing [ 5 ] [ 6 ] or even dyspnea . [ 7 ]
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. [7] It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. [ 8 ]
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.