Neuromuscular Disorders

Macarena Cabrera-Serrano, Reimar C. Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G. Laing, Conrad C. Weihl, Phillipa J. Lamont September 6, 2017

Cystinosis is a lysosomal storage disease with an estimated prevalence of 0.5–1 per 100,000 live births [1]. It is a recessive disease with complete penetrance, caused by mutations in CTNS [2]. The product of CTNS is cystinosin, a ubiquitously expressed lysosomal transporter.… Read More...

Eduardo F. Tizzano, Richard S. Finkel September 6, 2017

The range of phenotypes observed within classic spinal muscular atrophy (SMA) represents a continuum of one genetically defined disease, from very weak infants to ambulant children and adults. Various eponyms, terminology and classification schemes evolved in the century following Werdnig’s and Hoffmann’s early reports in the late nineteenth century, as the full expression of the disorder was identified [1].… Read More...

Haicui Wang, Claudia Castiglioni, Ayşe Kaçar Bayram, Fabiana Fattori, Serdar Pekuz, Diego Araneda, Hüseyin Per, Ricardo Erazo, Hakan Gümüş, Suzan Zorludemir, Kerstin Becker, Ximena Ortega, Jorge Alfredo Bevilacqua, Enrico Bertini, Sebahattin Cirak September 6, 2017

Congenital myopathies (CM) are a heterogeneous group of primary muscle diseases, most commonly manifesting with symptoms at birth, infancy or within the first two years of life. Severe muscle weakness is the major problem for patients with CM [1]. The severity of the clinical presentation can vary according to disease subtype from mild hypotonia causing delay of developmental motor milestones, usually noticed by the child’s parents, to fatal forms due to cardiac and respiratory involvement in the neonatal period [1].… Read More...

Elena Ikenberg, Ivan Karin, Birgit Ertl-Wagner, Angela Abicht, Stefanie Bulst, Krause Sabine, Benedikt Schoser, Peter Reilich, Maggie C. Walter September 6, 2017

Limb-girdle muscular dystrophy type 2 G is caused by different mutations in the telethonin gene (also named titin-cap or TCAP) [1,2]. This relatively mild form of autosomal recessive limb-girdle muscular dystrophy was first reported in 2000 in three Brazilian families, the disease was mapped to chromosome 17q11–12 and is caused by different mutations in the sarcomeric protein telethonin with consecutive telethonin deficiency in the muscles of the affected patients [1].… Read More...

Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci September 6, 2017

Lipodystrophies are a heterogeneous group of disorders characterized by congenital or acquired loss of adipose tissue [1]. The loss of adipose tissue is associated with insulin resistance in patients with lipodystrophy [2]. The body fat is almost totally absent in patients with generalized lipodystrophy.… Read More...

Hidehiro Ishikawa, Akira Taniguchi, Yuichiro Ii, Osamu Higuchi, Hidenori Matsuo, Shunya Nakane, Masaru Asahi, Atsushi Niwa, Hidekazu Tomimoto September 6, 2017

Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction that is characterized by muscle weakness and fatigue. Autoantibodies against acetylcholine receptor (AChR) and muscle-specific kinase (MuSK) are sensitive and specific diagnostic markers, as well as pathogenic factors of MG [1].… Read More...

Anna-Karin Kroksmark, Marie-Louise Stridh, Anne-Berit Ekström September 6, 2017

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder caused by an unstable CTG-repeat expansion in the DM1 protein kinase gene (DMPK gene) on chromosome 19q13.3 [1]. The disorder is multi-systemic with symptoms from the muscles, eyes, heart, brain, gastrointestinal tract and endocrine system [2,3].… Read More...

Jacob J. Gissy, Teresa Johnson, Deborah J. Fox, Anil Kumar, Emma Ciafaloni, Anthonie J. van Essen, Holly L. Peay, Ann Martin, Ann Lucas, Richard S. Finkel, MD STARnet September 6, 2017

Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that affects 1 in 3500 to 7000 males ages 5 to 9 in the U.S. [1]. Deletions, duplications or point mutations in the DMD gene cause absent, reduced or defective dystrophin in muscle [2].… Read More...

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