Muscular Atrophy, Spinal

Publication Title: 
JAMA neurology

Importance: Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction abnormalities. To date, more than 780 monogenic neuromuscular diseases, linked to 417 different genes, have been identified in humans.

Long, Chengzu
Amoasii, Leonela
Bassel-Duby, Rhonda
Olson, Eric N.
Publication Title: 
Human Molecular Genetics

Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. SMA is caused by loss of functional survival motor neuron 1 (SMN1), resulting in death of spinal motor neurons. Current therapeutic research focuses on modulating the expression of a partially functioning copy gene, SMN2, which is retained in SMA patients. However, a treatment strategy that improves the SMA phenotype by slowing or reversing the skeletal muscle atrophy may also be beneficial. Myostatin, a member of the TGF-beta super-family, is a potent negative regulator of skeletal muscle mass.

Rose, Ferrill F.
Mattis, Virginia B.
Rindt, Hansjˆrg
Lorson, Christian L.
Publication Title: 
European journal of human genetics: EJHG

Spinal muscular atrophy (SMA) is the leading genetic cause of early childhood death worldwide and no therapy is available today. Many drugs, especially histone deacetylase inhibitors (HDACi), increase SMN levels. As all HDACi tested so far only mildly ameliorate the SMA phenotype or are unsuitable for use in humans, there is still need to identify more potent drugs. Here, we assessed the therapeutic power of the pan-HDACi JNJ-26481585 for SMA, which is currently used in various clinical cancer trials.

Schreml, Julia
Riessland, Markus
Paterno, Mario
Garbes, Lutz
Roflbach, Kristina
Ackermann, Bastian
Kr‰mer, Jan
Somers, Eilidh
Parson, Simon H.
Heller, Raoul
Berkessel, Albrecht
Sterner-Kock, Anja
Wirth, Brunhilde
Publication Title: 
The Journal of Neuroscience: The Official Journal of the Society for Neuroscience

Spinal muscular atrophy (SMA), a recessive neurodegenerative disease, is characterized by the selective loss of spinal motor neurons. No available therapy exists for SMA, which represents one of the leading genetic causes of death in childhood. SMA is caused by a mutation of the survival-of-motor-neuron 1 (SMN1) gene, leading to a quantitative defect in the survival-motor-neuron (SMN) protein expression. All patients retain one or more copies of the SMN2 gene, which modulates the disease severity by producing a small amount of stable SMN protein.

Branchu, Julien
Biondi, Olivier
Chali, Farah
Collin, Thibault
Leroy, Felix
Mamchaoui, Kamel
Makoukji, Joelle
Pariset, Claude
Lopes, Philippe
Massaad, Charbel
Chanoine, Christophe
Charbonnier, FrÈdÈric
Publication Title: 
Annales Academiae Medicae Stetinensis

INTRODUCTION: Neuromuscular diseases progress to pathologic conditions which reveal structural or functional lesions of the elements forming the motor unit of the body. Typical clinical symptoms include muscle weakness, muscle flaccidity, pareses, and partial or total loss of reflexes. Excessive intensity of these symptoms leads i.a. to motor dysfunctions and ultimately to problems with physical development of children and youth. Treatment of such conditions is based on physiotherapy.

Cichocki, Paweł
Zyzniewska-Banaszak, Ewelina
Mosiejczuk, Hanna
Publication Title: 
Journal of Manipulative and Physiological Therapeutics

OBJECTIVE: To present two cases, one of a patient with a radicular syndrome and another of a patient with a pseudoradicular syndrome. CLINICAL FEATURES: A 45-yr-old man visited one chiropractic clinic complaining of a "pinched nerve" in his neck, with pain and paresthesia in his left hand. He reported that these symptoms began after a work accident 1 month before, when he lifted a heavy object. Radiographs revealed disk space thinning at C4-5, C5-6 and C6-7. CT scans revealed foraminal narrowing with a minor disk bulging at the level of C5-6 and a large disk protrusion at C7-T1.

Pollard, H.
Tuchin, P.
Publication Title: 
Chinese Medical Journal

Thirty-two patients with spinally originated muscle spasticity were treated with a transcutaneous electrical nerve stimulator, the Han's acupoint nerve stimulator (HANS) via skin electrodes placed over the acupoints on the hand and leg. High frequency (100 Hz), but not the low frequency (2 Hz), stimulation was effective in ameliorating muscle spasticity. While the therapeutic effect lasted for only 10 minutes in the first treatment, it became consolidated after consecutive daily treatment for 3 months.

Han, J. S.
Chen, X. H.
Yuan, Y.
Yan, S. C.
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