Glossary

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  • Scapuloperoneal myopathy

    Scapuloperoneal myopathy is a form of myopathy so named because of the involvement of the muscles in the shoulder girdle. Scapuloperoneal myopathy usually presents in young adulthood but may present in early adolescence. Muscle weakness is due to atrophy of the affected musculature. The atrophy raises the question of whether this is truly a myopathy…

  • Nemaline myopathy

    All of the myopathies are associated with muscle weakness and lack of muscle tone (dystonia). Nemaline myopathy is differentiated from other myopathies by the presence of rod-shaped inclusion bodies or nemaline rods in the skeletal muscles; there is also a higher than normal preponderance of slow muscle tissue. Nemaline myopathy is evident from birth or…

  • Myotubular myopathy

    Myotubular myopathy is one of many neuromuscular diseases. It manifests as a cessation or arrest of muscle development at the myotubular stage of development or at about 8-15 weeks gestational age. Diagnosis is possible prenatally due to the characteristic decrease in movement of the fetus. The arrest is related to the failure of vimentin and…

  • Desmin storage myopathy

    Desmin storage myopathy is a muscle disorder that is so named based on the findings of accumulations of desmin in affected individuals. Desmin is a necessary protein that is involved in skeletal and cardiac muscle; desmin storage myopathy occurs when there are excessive amounts of desmin resulting in impaired muscle development or function.  

  • Batten turner type congenital myopathy

    Batten Turner type congenital myopathy is a very rare muscular disorder that is progressive in nature. Initially evident by the lack of muscle tone at birth, Batten Turner type congenital myopathy is similar to congenital hypotonia. Also similar to Werdnig-Hoffman, in Batten Turner type the symptoms continue to progress through childhood before stabilizing in adolescence…

  • Myhre syndrome

    Myhre syndrome, or growth-mental deficiency syndrome of myhre, is an extremely rare disorder. It is an inherited disorder believed to be autosomal dominant and a result of mutation of paternal origin. All six cases reported in the literature have been males, born to parents in their late thirties. The disorder is exceptionally rare (only six…

  • Idiopathic myelofibrosis

    Myelofibrosis is said to occur when there is a formation of fibrous tissue or fibrosis within the bone marrow. Idiopathic myelofibrosis is the term used when the cause of the fibrosis within the bone marrow is unknown. Myelofibrosis may be a reaction to injury that results in the death of bone marrow tissue. In some…

  • Myalgic encephaloyelitis

    The term neurasthenia (from the Greek neur, “nerve” and asthenia, “weak”) is attributed to the 19th-century American neurologist George M. Beard, who coined it in 1869. Beard and other physicians began to notice patients who suffered from a constellation of symptoms that included fatigue, muscle soreness, insomnia, difficulty concentrating, general malaise, weakness of extremities, and…

  • The limb girdle muscular dystrophy

    The limb girdle muscular dystrophies are a heterogenous group of progressive myopathies or dystrophies in which the shoulder or pelvic girdle musculature is affected first or to a greater degree than other symptoms. The mode of transmission is genetic, and there are several different forms, including at least three autosomal dominant and eight autosomal recessive…

  • Fukuyama muscular dystrophy

    Fukuyama muscular dystrophy is a degenerative disorder in which there is generalized muscle weakness, hypotonia, and mental retardation from early infancy. The etiology is genetic, with an autosomal recessive transmission. The specific genetic mechanism has been identified as probably being a loss of function of the gene fukitin, which is an extracellular protein.  

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