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Laser treatment of drusen has been studied. While it is possible to eliminate drusen with this treatment strategy, it has been shown that this fails to reduce the risk of developing the choroidal neovascularisation which causes the blindness associated with age-related macular degeneration. [15]
In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity. This means that when a person has the genes for it, the condition may appear in both hands, one, or neither. A linkage scan proposed that the chromosomal locus of camptodactyly was 3q11.2-q13.12. [6]
Split hand/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. SHFM is a heterogeneous condition caused by abnormalities at one of multiple loci, including SHFM1 (SHFM1 at 7q21-q22), SHFM2 (Xq26), SHFM3 (FBXW4/DACTYLIN at 10q24 ...
Since the diseased area (lesion) is not encapsulated, clinical margins are difficult to define. As such, portions of the diseased tissue may be left in the foot after surgery. Inadequate excision is the leading cause of recurrence. [2] [8] Radiotherapy has been shown to reduce the size of the nodules and reduce the pain associated with them.
There is currently no known pharmacological treatment to hereditary motor and sensory neuropathy. However, the majority of people with these diseases are able to walk and be self-sufficient. [3] Some methods of relief for the disease include physical therapy, stretching, braces, and sometimes orthopedic surgery.
Autosomal dominant (IMB3; OMIM 605637 ) and autosomal recessive (IBM2; OMIM 600737 ) forms have been described. The autosomal recessive form, first characterized in Jews of Persian descent, is a myopathy that affects mainly leg muscles, but with an unusual distribution that spares the quadriceps, so-called quadriceps-sparing myopathy (QSM).
Patients usually lose the ability to ambulate 10 – 20 years after symptoms appear. [3] Milder forms present with symptoms other than weakness, such as muscle aches, cramps, or exercise intolerance, and people in this group can retain ambulation beyond age 60. [ 3 ]
Foot drop can be managed with ankle-foot orthoses or surgical tendon transfer, [8] in which the tibialis posterior muscle is repurposed to function as a tibialis anterior muscle. In select types of distal myopathy, evaluation of the heart may be indicated. [8] Scoliosis and contractures can be surgically managed. [8]