French Neurologist, Guillanume-Benjamin-Amand Duchenne

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

The family I interviewed has a son named Cuyler that is 22 years old. I talked to Cuyler’s mom Cathie. He is the oldest of three kids. Cuyler was born at 24 weeks’ gestation and had a grade 3 brain bleed. Because of being born premature and the bleeding in his brain it led to some of the disabilities Cuyler has. His mom told me that Cuyler has spastic quadriplegia. His disabilities include cerebral palsy, blindness, and he is nonverbal. She also told me that Cuyler also has seizures at least once a month, is hypotonic, and is fed by a g-tube. As far as physical movement the only gross motor skills that Cuyler can do is roll over.

Muscular dystrophy (MD) is a group of genetically transmitted diseases characterized by progressive symmetric wasting of skeletal muscles without evidence of neurologic involvement (Lewis, 2011). There are four different types of muscular dystrophy. The four types are Duchenne, Becker, Landouzy-Dejerine, and Erb. Duchenne muscular dystrophy is the most common type among children. It only affects boys; it’s passed down from the mother. Duchenne muscular dystrophy is created from X-linked recessive gene from the mother. About one in thirty-five hundred boys are born with Duchenne muscular dystrophy. The boys will experience weakening of the muscles, wasting and contractures and inability to walk by themselves by the time they even reach

Duchenne muscular dystrophy has a worldwide distribution, with a mean incidence of 1 per 3,500 male births (Clinical Pediatric Neurology, Pg. 180). The children lead a life ridden with difficulty and physical pain. While kids their age are seen running around playing, these boys rapidly loose functional use of their limbs. There are also many other problems associated with muscle wasting. To be sure that the child has the disease a muscle biopsy is usually done to check for dystrophin levels and confirm that the child does have DMD and not another disorder. Deterioration of

“When he was nine months old I approached Dr Andrea Behrman who had some very good success with children with spinal cord injury,” she said. “I didn’t expect a response but she gave me a call… I met with her and we tried to work out a way to get him into an activity-based rehabilitation program."

Pierre Marie, a French neurologist was one of the first to describe the conditions of what is now known as Foreign Accent Syndrome in 1907. His descriptions came from a patient who began to speak French with an Alsatian accent after suffering from a stroke. In 1919, twelve years later, a neurologist named Arnold Pick from the Czech Republic, reported a case where a patient who also suffered from a stroke, spoke the Czech language with a Polish accent. During World War II, 1941, there was another foreign accent syndrome case that occurred during the German assault on Norway. A Norwegian woman, Astrid L, suffered a brain injury due to an explosive shell during an air-raid. Astrid’s left side of her skull splintered and exposed her brain. In result of her brain being exposed, there was damage to her brain caused hemiplegia, paralysis of one side of the body; her right side, along with Broca’s aphasia, and a seizure disorder. After her sudden recovery from her injury, she was left with a German accent that was later rejected by her fellow Norwegians. Six years later, neurologist Monrad-Krohn described Astrid’s incident in a more in depth reported case.

There are more than twenty subtypes of LGMD, each is classified according to the genetic flaws that appear to cause them. Fifteen genes that lead to the production of muscle proteins have been identified as definite causes of LGMD when they are flawed. According to the Muscular Dystrophy Association, “Type 1 LGMDs are dominantly inherited, requiring only one mutation for symptoms to result. Type 2 LGMDs are recessively inherited, requiring two mutations — one from each parent — for symptoms to appear. Sometimes, LGMDs are referred to by their names, not their numbers, and some types have not been assigned numbers.” When one of these genes is faulty and protein problems arise, muscle cells and fibers do not function properly. The muscles then

Muscular dystrophies are caused by genetic mutations, and as of today there is no cure. Knowledge about this degenerative disease is crucial to awareness and eventually a cure. There are a handful of variations of this disease, the most common being Duchenne’s. Their common factor is the defect in their genetic code for dystrophin. Dystrophin being a vital protein that is necessary for muscle growth and function. (Hoffman 1987)

It’s good that she is already diagnosed and under the physio. In most cases, time and movement experiences are all that are needed to get a baby moving and developing. Weight distribution also plays a role; a top-heavy baby needs to develop extra strength to keep his balance. I would suggest speaking with her physio; management strategies that improve functioning joint alignment and raise the level of—and improve the quality of—sensory input in daily life can prove to be effective.

Pain usually isn’t present in the infants, but as they are young adults and the problem isn’t fixed, they may experience pain, for it is the most common symptom in the young adults. Lastly of common symptoms, a swayback is often noticed after the child starts walking. An exaggerated walk will appear and/or the legs will appear different in length. Some people call this swayback because of the way the child stands or walk.

Historically, this diagnosis has rested on the person’s history and physical examination. The American Academy of Pediatrics recommends standardized developmental screening of all children at ages 9, 18, and 30 months. Children whose developmental progress is at risk, may experience challenges in meeting early motor milestones. The algorithm for surveillance and screening helps identify children with motor delays by observing specific motor skills at the recommended visits. The skills observed are typically acquired at earlier ages and their absence signifies a delay. Some observations include, rolling over and sitting without support at 9 months, sitting, standing, walking and grasping objects at 18 months, more subtle gross motor, fine motor, speech and oral motor at 30 months. A developmental surveillance is maintained through a continuous and cumulative process. This includes prenatal, perinatal and interval history with the child’s health records, to be reviewed at each screening visit. Information is also obtained by eliciting key clinical information from the child’s parents and family. A complete physical examination and neuromotor examination are also completed. (Garey H. Noritz,

When it was our week I remember walking her into the building she was very shaky. Interested in what they did with her I asked my mom how physical therapy helps her get better if all they're doing is walking and stretching. My mom told me that they are trying to keep her bones from being stationary all day and are wanting her to build up her muscle memory when walking so that hopefully she can one day do it on her own without help from one of us or a cane.

The child may have an inherited condition, something that may be passed down through their

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There are a lot of different diseases or deformities that a newly born child could have. Most of them are common and some are considered rare. However, one of the most common and hard to deal with are the Motor disabilities. Motor disability means to have a disability in your muscles, bones or ligament which will lead to prevention of movement of limitations on it. Sometimes, motor disability can be the cause because of an inherited disease of a deformity in the spinal cord or brain neurons [1]. Having effective mobility is something that everyone needs. In history, this issue has not been considered as one that needs direct dealing with or solving. This is due to the weak knowledge they had on medicine and psychology which made this