The individual experienced progressive leg weakness and was no longer able to run by the age of There have been great strides in the field of research in regards to DMD but as of yet no cure has been found.
The results are relevant because mutations in the DES gene have not been previously identified as a cause of multi-systemic mitochondrial disease, and symptoms like neuropathy and depletion of both mitochondria and mitochondrial DNA have not been previously associated with desmin-related myopathy.
S13F in the DES gene was identified by whole exome sequencing. Researchers also hypothesize that there might be other neuromuscular diseases caused by mutations in structural proteins that directly interact with the mitochondria.
The patient was diagnosed with distal myopathy muscular disorder and mild neuropathy disorder in the peripheral nerves. I grew up with a family next door to me in which the two oldest boys had DMD. DMD is usually diagnosed when a young boy shows signs of muscle weakness and there is a family history of the disease.
Sequencing studies were unrevealing regarding known deleterious mutations or deletions; however, a particular mutation p.
This means that females in the family carry the gene mutation and can pass is on to their offspring male or female, but it is expressed in the males.
DES is a key scaffolding protein in muscles that anchors mitochondria. There is no known cure for DMD. In the case of DMD, there is a mutation in the gene, called the DMD gene, responsible for producing dystrophin causing a deficiency.
S13F mutation is known to be associated with desmin-related myopathy, a condition characterized by muscle weakness, arrhythmias and right ventricular hypertrophic cardiomyopathy disorder in which the heart muscle function becomes compromised.
This disease continued to plague their lives when the daughters passed it on to their boys and probably still plagues them today. This type of muscular dystrophy is the most common and severe form of the dystrophinopathic diseases.
Hopefully one day, there will be a cure for this devastating, debilitating disease and no more families will be forced to watch their children die right before their eyes. The patient had a pacemaker placed at 30 years of age due to cardiac problems, yet his cardiac function still continued to deteriorate.
This protein is vital to muscle function and contraction. The disease eventually took both of their lives.
The oldest boy did live long enough to graduate from high school but the younger of the two died from complications when he was This gene mutation is X-linked recessive and is inherited.
The team concluded that mitochondrial dysfunction occurs in desmin-related myopathy, making it a new mitochondrial disorder. In this way, the team suggests that therapies aimed at improving mitochondrial function could be effective therapeutic strategies to improve the effects associated with the often fatal desmin-related myopathy.Question LP3 Assignment: Muscular Disorders Case Report.
A mother presents with her 13 y/o son with a history of frequent falls, difficulty getting up from a lying or sitting position, trouble jumping, large calf muscles and poor grades in school. The study reports the case of a year-old man who presented to The Children’s Hospital of Philadelphia Mitochondrial-Genetics Diagnostic Clinic for assessment of a suspected mitochondrial disease based on the patient’s symptoms — cardiac, gastrointestinal, neuromuscular and mood disorders.
The patient had a pacemaker placed at 30 years. LP3 Assignment: Muscular Disorders Case ReportA mother presents with her 13 y/o son with a history of frequent falls, difficulty getting up from a lying or sitting position, trouble jumping, large calf muscles and poor grades in mi-centre.com the resources and text from this LP and an internet/library search to find current and credible information and write.
Dystrophinopathic diseases are muscular dystrophies that are of a genetic nature caused by a deficiency in the protein dystrophin. This protein is vital to muscle function and contraction. In the case of DMD, there is a mutation in the gene, called the DMD gene, responsible for producing dystrophin causing a deficiency.
LP3 Assignment: Muscular Disorders Case Report A mother presents with her 13 y/o son with a history of frequent falls, difficulty getting up from a lying or sitting position, trouble jumping, large calf muscles and poor grades in school/5. BMC Musculoskeletal Disorders welcomes well-described reports of cases that include the following: • Unreported or unusual side effects or adverse interactions involving medications.
• Unexpected or unusual presentations of a disease.Download