A glycogen storage disease is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD usually has an autosomal pattern of inheritance. It currently has no known cure or treatment.
Muscular Dystrophy Association (MDA) is an American nonprofit organization dedicated to supporting people living with muscular dystrophy, ALS, and related neuromuscular diseases. Founded in 1950 by Paul Cohen, who lived with muscular dystrophy, MDA accelerates research, advances care, and works to empower families to live longer and more independent lives but is perhaps known for its working relationship with comedian, entertainer and actor Jerry Lewis, its national chairman of 55 years and host of his annual telethon held live each Labor Day weekend. The organization's headquarters is in Chicago, Illinois.
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms.
Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. The cause is mutations and deletions in any of the 79 exons encoding the large dystrophin protein, essential for maintaining the muscle fiber's cell membrane integrity. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, however the hallmark of Becker is milder in-frame deletions. and hence has a milder course, with patients maintaining ambulation till 50–60 years if detected early.
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junctions, or skeletal muscles, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur.
Neuromuscular medicine is a subspecialty of neurology and physiatry that focuses the diagnosis and management of neuromuscular diseases. The field encompasses issues related to both diagnosis and management of these conditions, including rehabilitation interventions to optimize the quality of life of individuals with these conditions. This field encompasses disorders that impact both adults and children and which can be inherited or acquired, typically from an autoimmune disease. A neurologist or physiatrist can diagnose these diseases through a clinical history, examination, and electromyography including nerve conduction studies. Many recent drug therapies have been developed to address the acquired neuromuscular diseases including but not limited to immune suppression and drugs that increase the neurotransmitters at the neuromuscular junction. Gene modifying therapies are also a recent treatment branch of neuromuscular medicine with advancements made in disorders such as spinal muscular atrophy and Duchenne muscular dystrophy.
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. It may also appear later in life and then have a milder course of the disease. The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first. Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures.
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected.
Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.
Disease or patient registries are collections of secondary data related to patients with a specific diagnosis, condition, or procedure, and they play an important role in post marketing surveillance of pharmaceuticals. Registries are different from indexes in that they contain more extensive data.
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle loss (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. Only 12 known human families are described in scientific literature to have SMA-PME.
Eteplirsen is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), caused by a specific mutation. Eteplirsen only targets specific mutations and can be used to treat about 14% of DMD cases. Eteplirsen is a form of antisense therapy.
Kanneboyina Nagaraju is the Dean of the School of Pharmacy and Pharmaceutical Sciences at the State University of New York (SUNY), Binghamton. He holds the prestigious title of SUNY Distinguished Professor, the highest faculty rank awarded by the State University of New York system.
Mary M. Reilly FRCP is an Irish neurologist who works at National Hospital for Neurology and Neurosurgery. She studies peripheral neuropathy. She is the President of the Association of British Neurologists.
Lisa Welander was a Swedish neurologist, and was Sweden's first professor of neurology, taking up her professorship at Umeå University from 1964–75.
Reachable workspace is an outcome measure used in medicine to track disease progression in neuromuscular disorders that affect the upper extremities. It is defined as the space, relative to the torso, that an individual can reach by moving their upper extremities. It has been used in patients with duchenne muscular dystrophy (DMD) and facioscapulohumeral muscular dystrophy (FSHD).
Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder. It is characterized by progressive muscle stiffness and rigidity, particularly in the spine, which can severely limit mobility and impact quality of life. This condition is typically present from birth or early childhood and tends to worsen over time.
LAMA2 muscular dystrophy (LAMA2-MD) is a genetically determined muscle disease caused by pathogenic mutations in the LAMA2 gene. It is a subtype of a larger group of genetic muscle diseases known collectively as congenital muscular dystrophies. The clinical presentation of LAMA2-MD varies according to the age at presentation. The severe forms present at birth and are known as early onset LAMA2 congenital muscular dystrophy type 1A or MDC1A. The mild forms are known as late onset LAMA2 muscular dystrophy or late onset LAMA2-MD. The nomenclature LGMDR23 can be used interchangeably with late onset LAMA2-MD.
