Mary Reilly | |
---|---|
Born | Belmullet, County Mayo, Ireland |
Alma mater | University College Dublin |
Known for | Inherited neuropathies |
Scientific career | |
Institutions | National Hospital for Neurology and Neurosurgery |
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.
Reilly studied medicine at University College Dublin, graduating in 1986. [1] [2] She worked for a few years as a neurologist at St. Vincent's University Hospital, before joining Anita Harding at the National Hospital for Neurology and Neurosurgery in 1991. [1] [3] [4] [5] Reilly has spoken of how much she admired her supervisor, and attributes her clinical interests to Harding. [6] Reilly earned her medical doctorate in 1996, focussing on familial amyloid polyneuropathy. [1] [7] [8] She completed her neurological training at Royal Free Hospital and Guy's Hospital, [1] training with P. K. Thomas and Richard Hughes. [9]
At the National Hospital for Neurology and Neurosurgery Reilly specialises in inherited neuropathies. [10] [11] She was made consultant neurologist in 1998 [3] and a Fellow of the Royal College of Physicians in 2002. [4] She began to study neuromuscular disease, [12] in particular Charcot–Marie–Tooth disease. [13] [14] In 2004, she found that Vitamin C could be used to improve symptoms in mouse models of CMT1A (Charcot–Marie–Tooth disease type 1A). [15] She established a randomized controlled trial with colleagues in Italy to evaluate the efficacy of Vitamin C on CMT1A. [15] The UK part of the trial consisted of 50 participants, and found that whilst Vitamin C is safe, it does not slow the progression of the disease. [15] Although the trial was not a success, it developed new neuropathy outcome measures. [15] Her research includes the identification of genes such as BICD2 and methionyl-tRNA synthetase (MARS); [10] [16] [17] she has already conducted functional analysis of IGHMBP2. [18]
Reilly works with Muscular Dystrophy UK on muscle-wasting conditions. [19] She has also worked on new biomarkers for disease progression. [20] CMT parents suffer from damaged motor nerves, which results in muscles weakening, and ultimately allows fat to accumulate in muscles; MRI outcome measures could monitor intramuscular fat accumulation, and detect muscle water changes that preceded fat accumulation. [20] [21] Reilly identified that calf muscle fat friction maps are an outcome measure in patients with CMT1A, with calf muscle fat increased significantly in patients with CMT1A [22] She received a $1,000,000 grant from the Muscular Dystrophy Association to evaluate MRI protocols for monitoring changes in muscles from CMT. [23] [21]
In 2010 Reilly was appointed Professor of Clinical Neurology at University College London. [24] She leads the Division of Clinical Neurology and Medical Research Council Centre for Neuromuscular Diseases. [25] [26] With the MRC Centre for Neuromuscular Diseases and Muscular Dystrophy UK, Reilly runs an annual translational neuromuscular diseases meeting, which includes a patient day to discuss inherited neuropathies. [26] Along with CMT, Reilly has worked on hereditary sensory and autonomic neuropathies and carpal tunnel syndrome in inherited neuropathies. [27]
Reilly contributed to the 2013 Handbook of Clinical Neurology, [28] and wrote a chapter for the 2016 Springer Publishing collection Neuromuscular Disease: Case Studies from Queen Square. [29] [30] Reilly has served as President of the British Peripheral Nerve Society and the International Peripheral Nerve Society. [31] In 2015 she was appointed President-elect of the Association of British Neurologists. [3] She became the first woman to take the role in 2017. [3]
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).
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.
Polyneuropathy is damage or disease affecting peripheral nerves in roughly the same areas on both sides of the body, featuring weakness, numbness, and burning pain. It usually begins in the hands and feet and may progress to the arms and legs and sometimes to other parts of the body where it may affect the autonomic nervous system. It may be acute or chronic. A number of different disorders may cause polyneuropathy, including diabetes and some types of Guillain–Barré syndrome.
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.
Foot drop is a gait abnormality in which the dropping of the forefoot happens due to weakness, irritation or damage to the deep fibular nerve, including the sciatic nerve, or paralysis of the muscles in the anterior portion of the lower leg. It is usually a symptom of a greater problem, not a disease in itself. Foot drop is characterized by inability or impaired ability to raise the toes or raise the foot from the ankle (dorsiflexion). Foot drop may be temporary or permanent, depending on the extent of muscle weakness or paralysis and it can occur in one or both feet. In walking, the raised leg is slightly bent at the knee to prevent the foot from dragging along the ground.
Dejerine–Sottas disease, also known as, Dejerine–Sottas syndrome, hereditary motor and sensory polyneuropathy type III, and Charcot–Marie–Tooth disease type 3, is a hereditary neurological disorder characterized by damage to the peripheral nerves, demyelination, and resulting progressive muscle wasting and somatosensory loss. The condition is caused by mutations in various genes and currently has no known cure.
Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32), is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system. However, the protein is expressed in multiple organs, including in oligodendrocytes in the central nervous system.
Glycine—tRNA ligase also known as glycyl–tRNA synthetase is an enzyme that in humans is encoded by the GARS1 gene.
Growth arrest-specific protein 3 (GAS-3), also called peripheral myelin protein 22 (PMP22), is a protein which in humans is encoded by the PMP22 gene.
Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and efferent neural communication. HMSN are characterised by atypical neural development and degradation of neural tissue. The two common forms of HMSN are either hypertrophic demyelinated nerves or complete atrophy of neural tissue. Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and atrophy causes the breakdown of axons and neural cell bodies. In these disorders, a patient experiences progressive muscle atrophy and sensory neuropathy of the extremities.
Hereditary neuropathy with liability to pressure palsy (HNPP) is a peripheral neuropathy, a condition that affects the nerves. Pressure on the nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy and even paralysis of the affected area. In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months.
Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.
Neuromuscular ultrasound refers to a field in medicine in which ultrasound is used to diagnosis and guide treatment for people with neuromuscular diseases. Neuromuscular ultrasound is often combined with electrodiagnosis, and particularly nerve conduction studies and EMG, to improve the accuracy of diagnosis and add anatomic information to the functional information obtained with electrodiagnosis. It has been demonstrated that neuromuscular ultrasound adds value to the diagnosis of nerve disease in over 80% of cases.
Classifications of Charcot–Marie–Tooth disease refers to the types and subtypes of Charcot–Marie–Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. CMT is a result of genetic mutations in a number of genes.
Distal hereditary motor neuropathy type V is a particular type of neuropathic disorder. In general, distal hereditary motor neuropathies affect the axons of distal motor neurons and are characterized by progressive weakness and atrophy of muscles of the extremities. It is common for them to be called "spinal forms of Charcot-Marie-Tooth disease (CMT)", because the diseases are closely related in symptoms and genetic cause. The diagnostic difference in these diseases is the presence of sensory loss in the extremities. There are seven classifications of dHMNs, each defined by patterns of inheritance, age of onset, severity, and muscle groups involved. Type V is a disorder characterized by autosomal dominance, weakness of the upper limbs that is progressive and symmetrical, and atrophy of the small muscles of the hands.
Charlotte Jane Sumner is an American neurologist. She is a professor in the Departments of Neurology and Neuroscience at Johns Hopkins School of Medicine. Dr. Sumner cares for patients with genetically mediated neuromuscular diseases and directs a laboratory focused on developing treatments for these diseases. She co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot-Marie-Tooth (CMT) clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics.
David Gardner-Medwin was a British physician who worked as a paediatric neurologist in Newcastle upon Tyne, serving as the only neurologist for children for a population of 3.5 million. He is credited with introducing multidisciplinary care to the management of boys with Duchenne muscular dystrophy (DMD). When he retired at the age of 60, four consultants were appointed to replace him.
Pseudohypertrophy, or false enlargement, is an increase in the size of an organ due to infiltration of a tissue not normally found in that organ. It is commonly applied to enlargement of a muscle due to infiltration of fat or connective tissue, famously in Duchenne muscular dystrophy. This is in contrast with typical muscle hypertrophy, in which the muscle tissue itself increases in size. Because pseudohypertrophy is not a result of increased muscle tissue, the muscles look bigger but are actually atrophied and thus weaker. Pseudohypertrophy is typically the result of a disease, which can be a disease of muscle or a disease of the nerve supplying the muscle.
X-linked Charcot–Marie–Tooth disease is a group of genetic disorders and a type of Charcot–Marie–Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms.
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