Should my child see pediatrician or neurologist for muscular dystrophy?

ABSOLUTELY. If you suspect muscular dystrophy speak with your physician who may refer you on for evaluation by a neurologist.
Both. Md is a perfect example of a chronic medical condition where coordinated care with a medical home (pediatrician) & specialist care provides a balance. Both physicians will focus on what they can do for the patient. The pt is likely to have easier access to a local peds, who can follow the treatment recommendations of the specialists when needed or identify times when travel & consultation is best.
Neurologist. While there are no treatments available to stop/cure the progression of muscle weakness, the neurologist can assist in developing an exercise plan and assess the need for braces which can help maintain upright posture and the ability to walk.

Related Questions

I want to know what's the disease duchenne muscular dystrophy?

Muscle weakness. Duchenne muscular dystrophy is an inherited disorder that involves muscle weakness, which quickly gets worse. This condition primarily affects boys.

What is the definition or description of: Duchenne muscular dystrophy?

Duchenne muscular- -Dystrophy or DMD is a genetic disorder. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. DMD is characterized by progressive muscle weakness and degeneration. Symptom onset is usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls.

What mutation type causes duchenne muscular dystrophy?

Duchenne MD. Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach.
DMD is caused by. Mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier females need testing for cardiomyopathy, heart muscle disease.. See mda. Org.

How genetically is duchenne muscular dystrophy is transmitted?

X linked recessive. So it only shows up in males. Females can carry the gene and pass it on to their sons.
X linked. The gene for the abnormal protein is located on the x chromosome. Hence it is "x linked". Mostly boys are affected.

What are some treatments for duchenne muscular dystrophy?

Medical Home. Children with severe muscle disease need a team approach that includes orthopedics, pulmonary, neurology, physiotherapy, gi, gu, and perhaps cardiology. These experts need to be coordinated through a team leader - usually a pediatrician who provides the medical home.

What is the genetic inheritance of duchenne muscular dystrophy?

X-linked inheritance. Duchenne muscular dystrophy is caused by a mutation of the dmd gene on the x chromosome. A woman who is a carrier will pass the mutation (on average) to half of her sons and half of her daughters, but only the sons will develop muscular dystrophy - because they have only one x chromosome. Carrier females with one normal dmd gene are usually free of symptoms. Your genetic counselor can explain more.
X linked. The gene for the abnormal protein is located on the x chromosome. Hence it is "x linked". Mostly boys are affected.

What are the treatments available for duchenne muscular dystrophy?

See below. There are no known cures for duchenne muscular dystrophy, so treatments are aimed at improving symptoms and improving quality of life. Options include physical therapy, assisted ventilation, medications to help the heart.
Contact the MDA for. Referrals & support. Apply for ssi, medicaid & the katie beckett program at the same time. After achilles' tendon releases, mobilize in a walking splint/cast asap.. Consider steroid use; watch for weight gain & cataracts. Get baseline spine x-rays; use wheelchairs with solid seat & back inserts to slow scoliosis. Check heart & lung function before spinal fusion. Educational recs. To follow.
Educational. Genetics evaluation & testing shows if the boys have deletions in the part of the dystrophin gene associated with cognitive impairment. Many kids have typical cognition, some with deficits in auditory memory, digit span, & auditory comprehension. There's increased risk of adhd, autistic disorder & behavior problems. A neuropsychological eval (thru bch) will help tailor their iep's for school.

What happens if we donot give steroids in Duchenne muscular dystrophy?

It is recommended. To begin corticosteroids early to slow the loss of muscle strength, though they may improve muscle strength if started when the child begins to decline. Most boys with DMD are wheelchair-bound by age 10-12 years. In many cases oral steroids prolong ambulation by 1-3 years. Join Muscular Dystrophy Association India, http://www. Mdindia. Org for information & support.