Counseling Duchenne's Muscular Dystrophy

Discuss the reason for referral o Express sympathy if recent loss of son and brother o Why is the referring physician? o Tell me about your son/brother How can I help u Assess concerns o Reproductive decisions, planning for the future, prenatal diagnosis options
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The Disease : The cause is a genetic change which affects the muscles. Muscles contain a protein (chemical) called dystrophin, which is necessary for muscles to function properly. People with DMD have a shortage of dystrophin in their muscles. The lack of dystrophin leads to muscle fibre damage and a gradual weakening of the muscles. X-linked recessive Carrier females have a 50% chance of transmitting the DMD mutation in each pregnancy. With each pregnancy, a carrier has a 25% chance of having an affected child. Males are rarely a carrier they are either affected or normal. Sister has 50% chance of being a carrier. The symptoms usually start around age 1-3 years. Parents may notice: Difficulty with walking, running, jumping and climbing stairs. Walking may look different with a 'waddling' type of walk. The boy may be late in starting to walk (although many children without DMD also walk late). When you pick the child up, you may feel as if he 'slips through your hands', due to looseness of the muscles around the shoulder. The calf muscles may look bulky, although they are not strong. As he gets older, the child may use his hands to help him get up, looking as if he is 'climbing up his legs'. This is called 'Gower's sign'. Some boys with DMD also have a learning difficulty. Usually this is not severe. Sometimes, a delay in development may be the first sign of DMD. The child's speech development may also be delayed. Therefore, if you have a boy whose development is delayed, you may be offered a screening test for DMD. However, DMD is only one of the possible causes of developmental delay - there are many other causes not related to DMD. Diagnosis: Creatine Phosphokinase (CK) concentration o Evaluated by blood test o 100% of males with DMD have a serum CK concentration >10x normal o ~50% of female carriers have a concentration 2-10x normal o CPK is not completely reliable

Muscle biopsy o Histology Shows non-specific dystrophic changes o Western blot and immunohistochemistry Dystrophin protein is often completely or almost completely absent

 Molecular genetic testing There are two types of DNA tests for Duchenne muscular dystrophy: o Deletion testing looks for large deletions and duplications in the gene. This test reveals the genetic change responsible for the disorder in about 70 percent of patients with Duchenne muscular dystrophy. o Point-mutation testing detects smaller changes than the ones found by the deletion test, such as small insertions, deletions and point mutations.

The types of tests that have been used for carrier testing include CK testing, muscle biopsy, and genetic carrier testing. Genetic carrier testing it is very accurate and requires only a blood sample. Prenatal testing is available

Management There is no treatment for DMD o Prednisone therapy Improvement in strength and function which begins within 10 days and plateaus after 3 months Long term benefit has not been demonstrated o Physical therapy to promote mobility Range-of-motion exercises o Braces to delay the onset of contractures o Monitoring and surgical intervention for orthopedic complications Scoliosis, kyphosis, or lordosis o Routine monitoring for evidence of cardiomyopathy All carriers should have a complete cardiac evaluation at least once

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