T. Willis, R. Kulshrestha, E. Curtis, C. Sewry September 12, 2017

Mutations in the gene TPM3 (alpha-tropomysin (slow)) is a rare cause of nemaline myopathy Tropomyosin proteins regulate muscle contraction by controlling the binding of two muscle proteins, myosin and actin. Slow muscle α-tropomyosin is found only in type I fibers. Our case was given a diagnosis of ‘mild muscular dystrophy’ in 1968 when he was 18 years old.… Read More...

V. Selby, G. Ramdharry, M. Hanna, F. Muntoni September 12, 2017

Characteristics of myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) include muscle weakness and fatigue, which can increase with activity. Myasthenic symptoms can fluctuate week to week, day to day and typically within the same day. Current clinical services are designed to monitor disease progression and medical management but physical fluctuations in symptoms are rarely objectively measured.… Read More...

N. Chrestian, M. Sylvain, J. Karamchandani September 12, 2017

We report the case of a 7 yo French-Canadian girl with rigid spine syndrome. She was born with severe arthrogryposis that evolved in infancy with rigid spine syndrome. Her muscle biopsy showed multiminicore. She also presented mutilple episodes of sudden stiffness usually after infection or orthopaedic surgery triggering episodes of rhabdomyolysis.… Read More...

V. Selby, G. Ramdharry, J. Hogrel, E. Milev, M. Hanna, F. Muntoni September 12, 2017

Characteristics of myasthenia Gravis (MG) and congenital myasthenic syndromes (CMS) include fatigue and weakness which can increase with activity. Currently there are limited functional outcome measures that are regularly used in the myasthenic population. The outcome measures that are used for this population do not include standardised assessment over extended periods of time or repeated tasks which could capture muscle fatigability.… Read More...

A. Findlay, M. Harms, A. Pestronk, C. Weihl September 12, 2017

Mutations in MYH2 cause both dominant and recessively inherited myopathies. Patients with dominantly inherited MYH2 missense mutations present with congenital joint contractures that resolve with age, external opthalmoplegia, and later onset progressive proximal limb weakness. Muscle biopsy reveals rimmed vacuoles and intranuclear and cytoplasmic inclusions, prompting this entity to initially be described as hereditary inclusion body myopathy 3.… Read More...

S. Oh September 12, 2017

Ocular myasthenia gravis (OMG) refers to the disease clinically restricted to extrinsic ocular muscles characterized by impaired neuromuscular transmission. Patients with OMG show long-term disabilities of the ocular symptoms such as ptosis and diplopia which both interfere with daily activities. Although ocular disturbances are the most frequent initial symptoms in myasthenic patients, symptoms usually progress to generalized MG.… Read More...

L. Bownass, R. Newbury-Ecob, S. Love, K. Urankar, D. Study, K. Vijayakumar, A. Majumdar September 12, 2017

Snyder Robinson syndrome (SRS) (OMIM #309583) is a rare X-linked intellectual disability syndrome characterised by thin habitus, reduced muscle mass, osteoporosis, kyphoscoliosis, facial asymmetry and intellectual disability. The causative gene is the spermine synthase gene (SMS) located on the X chromosome.… Read More...

J. Jarrett, R. Mantegazza, J. Sieb, J. Datt September 12, 2017

Lambert-Eaton myasthenic syndrome (LEMS) is a rare presymptomatic disorder of neuromuscular transmission in which quantal release of acetylcholine is impaired, causing clinical characteristics including proximal muscle weakness, depressed tendon reflexes, post-tetanic potentiation, and autonomic changes. LEMS is a para-neoplastic syndrome in 40–50% of patients, but can present in the absence of any underlying tumour.… Read More...

F. Fattori, C. Fiorillo, C. Rodolico, G. Tasca, M. Verardo, E. Bellacchio, G. Fagiolari, A. Lupica, P. Broda, M. Moggio, C. Bruno, M. Tartaglia, E. Bertini, A. D'Amico September 12, 2017

Congenital myopathy (CM) caused by mutations in cofilin-2 gene (CFL2) is a rare neuromuscular disorder. The few reported cases show phenotypic heterogeneity ranging from early onset and rapid progressive form to milder myopathy characterized by limb girdle and axial muscles weakness.… Read More...

R. Janssen, E. Cup, T. Packer, J. Ijspeert, N. van Alfen, J. Groothuis September 12, 2017

Patients with a neuralgic amyotrophy (NA) often experience pain, fatigue and difficulties performing activities of daily life, which is correlated to scapular instability, increased fatigability and overuse of compensating muscles in NA. To obtain insight in the relation between daily activities and their complaints, patients are asked to draw graphs for their pain and fatigue during a typical day.… Read More...

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