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Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease)

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A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)

Also Known As:

Werdnig Hoffman Disease; Kugelberg-Welander Disease; Spinal Muscular Atrophy Type I; Infantile Spinal Muscular Atrophy; Werdnig-Hoffmann Disease; HMN (Hereditary Motor Neuropathy) Proximal Type I; Kugelberg-Welander Syndrome; Muscular Atrophy, Infantile; Muscular Atrophy, Spinal, Type I; Muscular Atrophy, Spinal, Type II; Muscular Atrophy, Spinal, Type III; Proximal Hereditary Motor Neuropathy Type I; Spinal Muscular Atrophy 1; Spinal Muscular Atrophy Type 2; Spinal Muscular Atrophy Type II; Spinal Muscular Atrophy Type III; Spinal Muscular Atrophy, Type 3; Spinal Muscular Atrophy, Type I; Spinal Muscular Atrophy, Type II; Spinal Muscular Atrophy, Type III; Type I Spinal Muscular Atrophy; Type II Spinal Muscular Atrophy; Type III Spinal Muscular Atrophy; Atrophies, Infantile Muscular; Atrophy, Infantile Muscular; Hoffman Disease, Werdnig; Hoffman Diseases, Werdnig; Infantile Muscular Atrophies; Infantile Muscular Atrophy; Kugelberg Welander Disease; Kugelberg Welander Syndrome; Kugelberg-Welander Syndromes; Werdnig Hoffman Diseases; Werdnig Hoffmann Disease; Juvenile Spinal Muscular Atrophy; Muscular Atrophy, Spinal, Infantile; Spinal Muscular Atrophy, Infantile; Spinal Muscular Atrophy, Juvenile

Networked: 130 relevant articles (3 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease)
2.	Muscular Dystrophies (Muscular Dystrophy)
3.	Spinal Muscular Atrophy (Progressive Muscular Atrophy)
4.	Muscular Diseases (Myopathy)
5.	Polymyositis

Experts

1.	Davis, Rebecca Hurst: 2 articles (12/2015 - 03/2014)
2.	Swoboda, Kathryn J: 2 articles (12/2015 - 03/2014)
3.	Gitlin, Jonathan D: 2 articles (06/2015 - 01/2012)
4.	Petris, Michael J: 2 articles (06/2015 - 01/2012)
5.	Weisman, Gary A: 2 articles (06/2015 - 01/2012)
6.	Tizzano, Eduardo F: 2 articles (01/2013 - 04/2003)
7.	Kubota, M: 2 articles (08/2000 - 01/2000)
8.	Sakakihara, Y: 2 articles (08/2000 - 01/2000)
9.	Oka, A: 2 articles (08/2000 - 01/2000)
10.	Miller, Elizabeth A: 1 article (12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spinal Muscular Atrophies of Childhood:

1.	Guanidine (Guanidine Nitrate)FDA Link 04/15/1977 - "[The efficacy of guanidine hydrochloride in the treatment of Werdnig-Hoffmann disease (author's transl)]." 12/01/1980 - "Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. " 04/15/1977 - "The use of guanidine hydrochloride is reported in the treatment of 4 cases of Werdnig-Hoffmann disease. "
2.	Thyrotropin-Releasing Hormone (Protirelin)FDA Link 07/01/1994 - "In three infants with spinal muscular atrophy type I, thyrotropin-releasing hormone showed little efficacy, but in children with types II and III, there was improvement in motor function and electromyographic findings after the thyrotropin-releasing hormone therapy. " 08/01/2009 - "We treated an 18-year-old male patient with spinal muscular atrophy type III by oral administration of the thyrotropin-releasing hormone analogue, taltireline hydrate. "
3.	SugammadexIBA 04/01/2012 - "Reversal of neuromuscular blockade with sugammadex in a patient with spinal muscular atrophy type III (Kugelberg-Welander syndrome)." 06/01/2013 - "Sugammadex was effective in reversing rocuronium induced neuromuscular block in a patient with Kugelberg-Welander disease."
4.	rocuronium (rocuronium bromide)FDA LinkGeneric 06/01/2013 - "Sugammadex was effective in reversing rocuronium induced neuromuscular block in a patient with Kugelberg-Welander disease."
5.	Myosins (Myosin)IBA 12/01/1977 - "Electron microscopical study of a biopsied specimen of myocardium from a patient with the Kugelberg-Welander syndrome revealed myocardial degeneration, including preferential loss of myosin filaments and abnormalities in the Z bands. " 02/01/1990 - "Werdnig-Hoffmann disease: myosin isoform expression not arrested at prenatal stage of development." 11/01/1981 - "The large amounts of foetal myosin present in many cases of infantile spinal muscular atrophy is evidence that innervation is necessary for the normal cessation of foetal myosin synthesis." 11/01/1981 - "The presence of foetal myosins in duchenne muscular dystrophy and infantile spinal muscular atrophy." 02/01/1990 - "Therefore, with the use of recently developed and characterized, myosin-isoform-specific monoclonal antibodies (McAbs), an immunocytochemical study of muscle of 6 children with Werdnig-Hoffmann disease was done to determine if the pattern of expression of myosin heavy chain isoforms (MHC) in these fibers was similar to that of 20-week gestation muscle. "
6.	DNA (Deoxyribonucleic Acid)IBA 05/01/2001 - "The young ages of the patients and their failure to respond to immunoglobulin therapy were the major clues to the final diagnosis of spinal muscular atrophy type I. Blood for DNA study revealed homozygous deletion mutation in exons 7 and 8 of the survival motor neuron gene. " 05/01/2003 - "This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease." 09/01/1999 - "Prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by DNA deletion analysis of cultivated amniocytes." 03/01/1998 - "We report two infants with Werdnig-Hoffmann disease diagnosed by means of spinal MR imaging, histopathologic examination of muscle biopsy specimens, cloned DNA analysis, electrophysiological examination, and clinical history. " 03/01/1994 - "Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers."
7.	Arthrogryposis multiplex congenitaIBA 07/01/2011 - "This prospective, case-controlled study involved an ambulatory patient with arthrogryposis multiplex congenita and 2 nonambulatory patients with spinal muscular atrophy type II. The WREX uses elastic bands to negate the effects of gravity; it allows a person with neuromuscular weakness to move their arm in 3 dimensions. " 01/01/1978 - "[Features of progressive muscular dystrophy, infantile spinal muscular atrophy, and congenital multiple arthrogryposis]." 04/01/1954 - "[Anatomo-clinical comparative studies on amyotonia congenita, on Werdnig-Hoffmann, disease and on arthrogryposis multiplex congenita]."
8.	SynaptophysinIBA 03/01/1996 - "This report concerns the study of synaptophysin (SP) expression in the anterior horn in four cases of Werdnig-Hoffmann disease (WHD). " 07/01/1996 - "Decreased synaptophysin immunoreactivity was observed in the anterior horn cell column in all patients with Werdnig-Hoffmann disease and correlated with the degree of degenerative change in the motor neurons. " 07/01/1996 - "To assess the synaptic changes in the motor neurons, we examined immunoreactivities for synaptophysin in the spinal cord of 11 patients with Werdnig-Hoffmann disease. " 03/01/1996 - "Synaptophysin expression in the anterior horn of Werdnig-Hoffmann disease."
9.	Nerve Growth Factor (NGF)IBA 09/01/2009 - "The aim of this study was to investigate the expression of three neurotrophic factors: nerve growth factor, brain-derived neurotrophic factor, and glial cell-derived neurotrophic factor in the cerebrospinal fluid of six infants with spinal muscular atrophy type I and six controls. "
10.	Protein Isoforms (Isoforms)IBA 02/01/1990 - "Therefore, with the use of recently developed and characterized, myosin-isoform-specific monoclonal antibodies (McAbs), an immunocytochemical study of muscle of 6 children with Werdnig-Hoffmann disease was done to determine if the pattern of expression of myosin heavy chain isoforms (MHC) in these fibers was similar to that of 20-week gestation muscle. "

Therapies and Procedures

1.	Walkers 04/01/2013 - "The purpose of this study was to examine the correlations between change scores on the Manual Muscle Test for muscle strength and the Gross Motor Function Measure for motor function in individuals with spinal muscular atrophy type 2 and type 3. The specific aims were to reveal any differences in correlations between younger (children) and older (adolescents and adults) individuals and also between walkers and nonwalkers with spinal muscular atrophy. "
2.	Denervation 01/01/2004 - "Signs of denervation on needle electromyography strongly suggest infantile spinal muscular atrophy. " 03/01/1997 - "Type I smooth red fibers were observed in chronic denervation process; they were specially frequent in Kugelberg-Welander syndrome. " 02/01/1986 - "Since electromyography showed a myopathic pattern, CK was definitely elevated and muscle histologic examination did not show any denervation of the type found in Werdnig-Hoffmann disease, the present disorder was assumed to be caused either by hardly developed motoneurons or by abnormal interaction between muscles and nerves." 01/01/1975 - "The authors describe in biopsies from 6 cases of Werdnig-Hoffmann disease, including 2 of the more benign type, the ultrastructural typical aspects of denervation. "
3.	Tracheostomy 06/01/2012 - "International survey of physician recommendation for tracheostomy for Spinal Muscular Atrophy Type I." 09/01/2004 - "To describe the clinical and respiratory course in infantile spinal muscular atrophy (SMA) type I, type II, and type III, and to evaluate the respiratory needs for these patients, using noninvasive or tracheostomy ventilation. " 08/01/1980 - "A ten-year-old boy with Kugelberg-Welander syndrome was referred to the Ear-Nose- and Throat department for an emergency tracheostomy operation. "
4.	Gastrostomy 05/01/1998 - "Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding." 11/01/2008 - "Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type I." 06/01/2007 - "Laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation may improve survival in type I and severe type II spinal muscular atrophy." 06/01/2007 - "This case series demonstrates that laparoscopic gastrostomy tube placement coupled with Nissen fundoplication and noninvasive positive pressure ventilation can be successfully used as a treatment option to allow for early postoperative extubation and to optimize quality of life in type I and severe type II spinal muscular atrophy patients."
5.	Cesarean Section (Caesarean Section) 07/01/2004 - "Anaesthesia for caesarean section in spinal muscular atrophy type III." 05/01/2004 - "We describe the anesthetic management for cesarean section and tubal ligation of a 23-year-old primipara with type II spinal muscular atrophy (benign Werdnig Hoffmann). " 01/01/2004 - "Caesarean section in a parturient with type III spinal muscular atrophy and pre-eclampsia." 07/01/2004 - "We describe the conduct of general anaesthesia for a patient with spinal muscular atrophy Type III (Kugelberg-Welander disease) undergoing elective caesarean section. "