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Although there is no cure, surgery is sometimes used to relieve symptoms. [18] Surgery may be necessary to treat misalignment of the hip (osteotomy of the pelvis or the collum femoris) and, in some cases, malformation (e.g., genu varum or genu valgum). [19] In some cases, total hip replacement may be necessary.
AL amyloidosis is caused by the deposition of abnormal antibody free light chains. The abnormal light chains are produced by monoclonal plasma cells, and, although AL amyloidosis can occur without diagnosis of another disorder, it is often associated with other plasma cell disorders, such as multiple myeloma and Waldenström's macroglobulinemia. [6]
Potential symptoms include weight loss, diarrhea, abdominal pain, heartburn (gastrointestinal reflux), and GI bleeding. [15] Amyloidosis may also affect accessory digestive organs including the liver, and may present with jaundice, fatty stool, anorexia, fluid buildup in the abdomen, and spleen enlargement.
At birth, people with Maroteaux–Lamy syndrome typically do not display any signs or symptoms. [4] Signs are revealed early in the affected child's life, with one of the first symptoms often being a significantly prolonged age of learning how to walk. Growth begins normally, but children usually stop growing by age 8.
Some signs and symptoms that are frequently exhibited in patients with SJS include epiphyseal abnormalities, metaphyseal abnormalities, arthrogryposis multiplex congenita, bowing of long bones, a protruding lower lip, full cheeks, a disturbed gait, genu valgum, hip dysplasia, hypertonia, intellectual disability, joint stiffness, low-set posteriorly-rotated ears, metatarsus valgus, micromelia ...
In more rare instances, the development of Felty's syndrome may precede the development of the symptoms and physical findings associated with rheumatoid arthritis. [ 4 ] Felty's syndrome is also characterized by an abnormally enlarged spleen ( splenomegaly ) and abnormally low levels of certain white blood cells ( neutropenia ).
Often, every joint in a patient with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. [4] Every joint in the body, when affected, displays typical signs and symptoms: for example, the shoulder (internal rotation); wrist (volar and ulnar); hand (fingers in fixed flexion and thumb in palm); hip (flexed, abducted and externally ...
Multifocal motor neuropathy (MMN) is a progressively worsening condition where muscles in the extremities gradually weaken.The disorder, a pure motor neuropathy syndrome, is sometimes mistaken for amyotrophic lateral sclerosis (ALS) because of the similarity in the clinical picture, especially if muscle fasciculations are present.