Treatment
Non-specific treatments include:
Non-steroidal anti-inflammatory drugs (NSAIDs): ibuprofen, naproxen or aspirin
Heat or ice
A counterforce brace or "elbow strap" to reduce strain at the elbow epicondyle, to limit pain provocation and to protect against further damage.Before anesthetics and steroids are used, conservative treatment with an occupational therapist may be attempted. Before therapy can commence, treatment such as rest, ice, compression and elevation (R.I.C.E.) will typically be used. This will help to decrease the pain and inflammation; rest will alleviate discomfort because golfers elbow is an overuse injury. The subject can use a tennis elbow splint for compression. A pad can be placed anteromedially on the proximal forearm. The splint is made in 30–45 degrees of elbow flexion. A daytime elbow pad also may be useful, by limiting additional trauma to the nerve.Simple analgesic medication has a place, as does more specific treatment with oral anti-inflammatory medications. These will help control pain and any inflammation. A more invasive treatment is the injection into and around the inflamed and tender area of a glucocorticoid (steroid) agent. After causing an initial exacerbation of symptoms lasting 24 to 48 hours, this may produce an improvement of the condition in some five to seven days. Physical therapy
Therapy includes a variety of exercises for muscle and tendon reconditioning, starting with stretching and gradual strengthening of the flexor-pronator muscles. Strengthening will slowly begin with isometrics and progresses to eccentric exercises helping to extend the range of motion back to where it once was.
Researchers are also investigating whether changes in additional genes, particularly genes on the X chromosome, contribute to the development of signs and symptoms. The degree of heteroplasmy, the percentage of mitochondria that have mutant alleles, may play a role. Patterns of mitochondrial alleles called haplogroup may also affect expression of mutations. History
LHON was first described by the German ophthalmologist Theodor Leber (1840–1917) in 1871. In a paper, Leber described four families in which a number of young men had abrupt loss of vision in both eyes either simultaneously or sequentially. This disease was initially thought to be X-linked but was subsequently shown to be mitochondrial. The nature of the causative mutation was first identified in 1988 by Wallace et al. who discovered the guanine (G) to adenosine (A) mutation at nucleotide position 11778 in nine families. This mutation converts a highly conserved arginine to histidine at codon 340 in the NADH dehydrogenase subunit 4 of complex I of the mitochondrial respiratory chain. The other two mutations known to cause this condition were identified in 1991 (G to A point mutation at nucleotide position 3460) and 1992 (thymidine (T) to cytosine (C) mutation at nucleotide 14484). These three mutations account for over 95% of cases: the 11778 mutation accounts for 50-70% of cases, the 14484 mutation for 10-15% and the 3460 mutation for 8-25%. Research
Human clinical trials are underway at GenSight Biologics (ClinicalTrials.gov # NCT02064569) and the University of Miami (ClinicalTrials.gov # NCT02161380) to examine the safety and efficacy of mitochondrial gene therapy in LHON.