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A pre-operative image of a 22-year-old male with a very extreme case of Scheuermann's disease. Scheuermann's disease is a skeletal disorder. [3] It describes a condition where the vertebrae grow unevenly with respect to the sagittal plane; that is, the posterior angle is often greater than the anterior.
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.
By definition, all limb-girdle muscular dystrophies (LGMD) cause progressive proximal weakness, [3] meaning weakness of the muscles on or close to the torso that worsens over time. Explicitly, LGMD preferentially affects muscles of the hip girdle, thigh, shoulder girdle, and/or upper arm. [8] [6] The muscle weakness is generally symmetric. [11]
While multiple muscles in a limb are usually affected in the Upper Motor Neuron Syndrome, there is usually an imbalance of muscle activity (muscle tone), such that there is a stronger pull on one side of a joint, such as into elbow flexion. Decreasing the degree of this imbalance is a common focus of muscle strengthening programs.
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.
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.
The disorder progresses with age, but the aforementioned treatments can help prevent or sometimes relieve symptoms. With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. Studies have shown surgery can help improve low back pain, urinary symptoms leg weakness and walking distance.
Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. [ 3 ] [ 1 ] There may also be short ribs, less fat, and breast and nipple abnormalities on the same side of the body. [ 1 ]