Limb-girdle muscular dystrophy

Limb girdle muscular dystrophies (LGMD) is a general term used to describe a diverse cluster of neuromuscular disorders and they are usually being inherited. They are caused by mutations of certain genes which results in respective defective proteins being generated. These defective proteins are usually involved in the direct or indirect stabilizing of the membrane of the muscle. This disorder involves symptoms like primary or secondary weakening of limb and axial muscles, muscle wasting and joint contractures (a loss of a variety of motion in a joint due to numerous alterations in connective tissue and muscle during immobilizing period) Though they are inherited, most of them becomes apparent during adulthood. There are two general types of LGMD namely, LGMD1 and LGMD2. LGMD1 is being caused when 1 abnormal gene copy is present whereas LGMD2 is caused when 2 abnormal gene copies are present. There are many types of LGMD and one of them is LGMD 2B. Figure 1 shows the distribution of main muscle weakening found in various types of dystrophy conditions through the shaded areas. C-limb-girdle dystrophy. LGMD2B is resulted where there is a mutation in dysferlin gene encoding protein. In this disorder, tissues are being…

Nowadays we hear more about successful stories of individuals who were able to overcome the inequality and injustice placed by society. Many have become successful leaders within our community who advocate for equality, dignity and respect. This is the story of Angelica, a 22-year-old Mexican American female who is a student at San Diego State University in her junior year who is pursuing a bachelor's degree in social work. Angelica states that growing up she had to face many difficult…

specific types of Muscular Dystrophy only affect men. For instance the Duchenne is most commonly known for affecting young children, but Duchenne muscular dystrophy is also know to only affect makes. This type of condition and reductions the muscle in mass and causes it to diminish and become weaker and weaker. This disorder is know to have significant affects on young boy, and by the age of 12 they will require the use of a wheel hair. With time the limbs and spin will become considerably…

Muscular dystrophy is a group of noncommunicable diseases that is passed down through heredity lines. Noncommunicable diseases are diseases that developed in humans without other species interference and that cannot be passed between people. Muscular dystrophy can be broken up into nine major forms: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, congenital, Oculopharyngeal, Distal, and Emery-Dreifuss. Muscular dystrophy can appear at any time in one’s life, typically in infancy or…

caregivers formulate a plan of treating the patient and improving the patient’s quality of care. The first step for a diagnosis is a thorough physical examination by a doctor. Early and overall physical signs of MD will vary due to which specific dystrophy is present. The simplest early physical finding is generalized weakness that starts proximal and spreads distally. An exception is made for a few rare forms of dystrophy such as fasioscapulohumeral dystrophy (FSHD), where symptoms always start…

genetic diseases that are classified as muscular dystrophies. Muscular dystrophy is the weakness and degeneration of the skeletal muscles that often control movement. In muscular dystrophy, abnormal genes, also called mutations, interfere with the production of the proteins that are needed to form healthy muscle in the body. There are many kinds of muscular dystrophies and symptoms are more than likely begin during childhood. With different kinds of muscular dystrophy, comes many different…

In class, we’ve talked about the myosin when seeing the microfilament. It is the motor protein of microfilament which moves along it tracks toward the positive end. It is also the major component of skeletal muscle thick filaments and thus, is involved in muscle contraction. The disease that is going to discuss is related to muscle contraction, called Myosin Storage Myopathy (also known as hyaline body myopathy). The characteristic or symptom of this disease is the weakness of the muscles that…

B – dystrophin is part of a group of a protein complex that works together to strengthen muscle fibres and protect them from injury as muscles contract and relax. Dystrophin is produced by the DMD gene and mutations cause Duchenne and Becker muscular dystrophies, which lead to reduced amounts of dystrophin in skeletal muscle cells. This reduced amount of dystrophin causes muscles to weaken and damage over time, causing the build up of fat rather than muscle. This pseudohypertrophy causes the…

Myotonic dystrophy type 1 (DM1) or Steinert disease is a rare genetic multisystem disorder. Typical symptoms are delayed relaxation of muscles (myotonia) and slowly increased muscle weakness (dystrophy). It also affects the eye, heart, endocrine system, and central nervous system [1]. The prevelance is estimated at 1:10,000 [2]. DM1 is caused by an unstable (CTG) microsatellite repeat expansion within the DMPK (dystrophia myotonica protein kinase) 3- untranslated region (3’-UTR) in chromosome…

Muscular dystrophy is genetic disorder that is caused by a mutation in the genes, causing muscle mass to become weaker and degenerated. This is a consequence on the genes with mutation that have a missing protein responsible for muscle health. There are over forty types of muscular dystrophy and each varies in characteristics and severity. Duchenne muscular dystrophy is the most common type and only boys are affected by it. Characteristics can vary depending on the type of muscular dystrophy,…