Neurological/neuromuscular diseases

Professor of Neurology at the Keck School of Medicine, USC. Clinical Professor of Neurology, David Geffen School of Medicine, UCLA. Director of Neuromuscular Disease, VA Greater Los Angeles Olive View UCLA Medical Center, 16111 Plummer Street, Sepulveda, California 91343. 

Tarnopolsky M, Martin J. Creatine monohydrate increases strength in patients with neuromuscular disease. Neurology 1999 52(4) 854-857. 

A3. Aronson, S. M., Enzyme determinations in neurologic and neuromuscular diseases of infancy and childhood. Pediat. Clin. North Am. 7, 527 (1960). 

Siekert, R. G., and Fleisher, G. A., Serum glutamic oxalacetic transaminase in certain neurologic and neuromuscular diseases. Proc. Staff Meetings Mayo Clin. 31, 459 (1956). 

Other Disease Categories. Tumors, infections, genetic and developmental diseases, birth injuries, trauma, peripheral neuropathies, neuromuscular diseases, and myopathies are also the focus of neurological assessment. 

Kissel IT, Levy RJ, Mendell JR, et al. Azathioprine toxicity in neuromuscular disease. Neurology 1986 36 35-39. 

Engel WK. (1962) The essentiality of histo- and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease. Neurology 12, 778-794. 

Engel WK. (1965) Histochemistry of neuromuscular disease-significance of muscle fiber types. "Neuromuscular Diseases". In Proceedings of the 8th International Congress of Neurology. Excerpta Medica Foundation, Amsterdam, vol. 2, pp. 67-101. 

This study is supported partly by the "Research on Psychiatric and Neurological Diseases and Mental Health" from the Japanese Health Sciences Foundation the Program for Promotion of Fundamental Studies in Health Sciences of the National histimte of Biomedical Innovation (NEBIO) "Research Grant (22-5) for Nervous and Mental Disorders" from the Ministry of Health, Labour and Welfare the Kato Memorial Trust for Nambyo Research and the Neuromuscular Disease Foundation. 

Peyer AK KJ, Frank S, Fuhr P, Fischmann A, Kneifel S, Thomann S, Camano P, SinmeichM, Renaud S. Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy, Paget s disease of the bone and dementia. Abstract. World Federation of Neurology Xn International Congress on Neuromuscular Diseases, Naples, Italy. 2010. 

Labanowski M, Schmidt-Nowara W, Guilleminault C. Sleep and neuromuscular disease frequency of sleep-disordered breathing in a neuromuscular disease clinic population. Neurology 1996 47 1173-1180. 

Gozal D. Pulmonary manifestations of neuromuscular disease with special reference to Duch-enne muscular dystrophy and spinal muscular atrophy. Pediatr Pulmonol 2000 29 141-150. Varrato J, Siderowf A, Damiano P, et al. Postural change of forced vital capacity predicts some respiratory symptoms in ALS. Neurology 2001 57 357-359. 

Nomori H, Ishihara T. Pressure-controlled ventilation via a mini-tracheostomy tube for patients with neuromuscular disease. Neurology 2000 55 698-702. 

Infants and children may require long-term ventilatory support due to three categories of diseases that may impair the ventilatory balance increased respiratory load (due to intrinsic cardiopulmonary disorders, upper airway abnormalities, or skeletal deformities), ventilatory muscle weakness [due to neuromuscular diseases (NMD) or spinal cord injury], or failure of neurological control of ventilation (with central hypoventilation syndrome being the most common presentation) (Fig. 1). 

Kark, R.A.P., Blass, J.P. and Engel, W.K. (1974), Pyruvate oxidation in neuromuscular diseases Evidence for a genetic defect in two families with the clinical syndrome of Friedreich s ataxia. Neurology, 24,964. 

IGF I has recently been the focus of considerable interest due to its actions on motor neurons. It can prevent normal motor neuron cell death during development, reduce the loss of these cells following nerve injury and enhance axonal regeneration. In the adult, injection of IGF I results in sprouting of motor neuron terminals and increases the size of the neuromuscular junction. These and other studies suggest potential therapeutic applications of IGF I in several neurological diseases including amyotrophic lateral sclerosis and peripheral neuropathies. 

Tetanus immunoglobulin is an example of an antibody preparation used to induee passive immunization against a mierobial toxin. Tetanus (lockjaw) is an infectious disease caused by the bacterium, Clostridium tetani. Bacterial spores can commonly contaminate surface wounds and the resulting bacterial cells produce a toxin as they multiply. The toxin interferes with normal neurological function, particularly at neuromuscular junctions. The result is spasmodic contraction of muscles and, if untreated, mortality rates are high. Treatment with antibiotics and anti-toxin, however, is highly effective if administered promptly. 

Although many mitochondrial diseases, such as MELAS, will involve multiple organs, neurological or neuromuscular abnormalities are often the earliest signs of disease.Why ... 

Komal Kumar RN, Patil SA, Taly AB, Nirmala M, Sinha S, Arunodaya GR. Effect of D-penicillamine on neuromuscular junction in patients with Wilson disease. Neurology 2004 63(5) 935-6. 

Myasthenia gravis is a neurological disease of autoimmune origin. The basic defect is the reduction of ificotinic acetylcholine receptors (AChR) at the neuromuscular junction, resulting in inadequate transmission through the neuromuscular junction and hence the clinical syndrome of weakness, frequently worsened by exercise or effort. 

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