Presentation
Presented as a nosological entity in 1964 by Kaeser. See also Wohlfart-Kugelberg-Welander syndrome, under Gunnar Wohlfart, Swedish neurologist. Bibliography J. [whonamedit.com]
(Poster presentation on the Internat. Congr. on Neuromuscul. Diseases, 2-7 July 2006, Istanbul, Turkey). [omicsonline.org]
AD, AR 1 RLBP1 180090 Retinitis punctata albescens AD, AR 4 RS1 300839 Retinoschisis XLR 3 VPS13B 607817 Cohen syndrome AR 21 For many forms of flecked retina there is no need for treatment, however, vision aids may be useful when macular disease is present [centogene.com]
QuickFACTS: What: Spinal Muscular Atrophy Who: Anyone When: At any age Where: Motor nerve cells Why: Various genetic causes Muscular Dystrophy More information Case Study: John Woodbury Case Presentation John is 44 years old. [docplayer.net]
Additionally, rare polymorphisms may be present that could lead to false-negative or false-positive results. [mayomedicallaboratories.com]
Entire Body System
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Weakness
Symptoms - Scapuloperoneal syndrome- neurogenic- Kaeser type * Foot drop * Clubfoot * Wasting of lower leg muscles * Wasting of shoulder muscles * Leg weakness * Shoulder weakness * Facial weakness * Paraplegia * Weak eye muscles Causes - Scapuloperoneal [checkorphan.org]
Related phenotypes are talipes equinovarus and scapuloperoneal weakness [malacards.org]
Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Foot dorsiflexor weakness Foot drop 0009027 Peroneal muscle atrophy 0009049 Scapuloperoneal weakness 0003704 Shoulder girdle muscle [rarediseases.info.nih.gov]
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Physician
Valuable insights into the muscular dystrophies, including treatment, diagnosis, and care and patient management A comprehensive compilation of the combined wisdom of the most highly regarded physicians, experts, and scientists studying the muscular dystrophies [books.google.de]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
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Movement Disorder
Truong, MD, Head, The Parkinson’s and Movement Disorders Institute, Orange Coast Memorial Medical Center, Fountain Valley, California, USA William Carroll, MD, Head, Department of Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, [books.google.de]
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am. J. Hum. Genet. 93, 181–190 (2013). 46. Carss, K. J. et al. [nature.com]
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Pathologist
But the specialist paediatric pathologist will also find much of interest and value. Others working in germane specialties - such as obstetricians, neonatologists and paediatric surgeons - will also obtain much valuable information. [books.google.de]
Cardiovascular
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Vascular Disease
Disease 486 Urolithiasis 496 Bones and Joints 521 Skeletal Abnormalities Developed Later in Childhood or Adolescence 531 Other Diseases of the Thymus 641 Malignant Lymphomas 647 Normal Bone Marrow 662 Pancytopenia 668 Thrombocytosis 676 Adrenal Medulla [books.google.de]
Liver, Gall & Pancreas
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Jaundice
Lesions 144 Inherited Metabolic Disease 157 Infections 170 Trauma 183 Gastrointestinal System 207 Stomach 220 Malformations of the Anus and Rectum 258 Liver and Gallbladder 275 Metabolic Defects Causing Unconjugated Hyperbilirubinaemia 281 Obstructive Jaundice [books.google.de]
Musculoskeletal
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Muscular Atrophy
Autopsy shows muscular atrophy and involvement of the claudal cranial nuclei. Etiology unknown. Inheritance is either autosomal dominant or X-linked. It is clinically indistinguishable from Kugelberg-Welander (recessive). [whonamedit.com]
The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. [books.google.de]
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am J Med Genet. 1989 Jul. 33(3):328-35. [Medline]. [emedicine.medscape.com]
Juvenile spinal muscular atrophy, or Kugelberg-Welander disease, in contrast to infantile spinal muscular atrophy, may have either a juvenile or late onset. [healio.com]
Emery Published 1971 in Journal of medical genetics In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. [semanticscholar.org]
Neurologic
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Foot Drop
Symptoms - Scapuloperoneal syndrome- neurogenic- Kaeser type * Foot drop * Clubfoot * Wasting of lower leg muscles * Wasting of shoulder muscles * Leg weakness * Shoulder weakness * Facial weakness * Paraplegia * Weak eye muscles Causes - Scapuloperoneal [checkorphan.org]
At onset, bilateral foot drop and talipes equinovarus; then in a second phase, the shoulder girdle and finally bulbar involvement may occur. Associated disorders may include heart defect and short heel cord. [whonamedit.com]
Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Foot dorsiflexor weakness Foot drop 0009027 Peroneal muscle atrophy 0009049 Scapuloperoneal weakness 0003704 Shoulder girdle muscle [rarediseases.info.nih.gov]
Workup
Serum
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Thrombocytosis
[…] the Glomeruli 470 Renal Vascular Disease 486 Urolithiasis 496 Bones and Joints 521 Skeletal Abnormalities Developed Later in Childhood or Adolescence 531 Other Diseases of the Thymus 641 Malignant Lymphomas 647 Normal Bone Marrow 662 Pancytopenia 668 Thrombocytosis [books.google.de]
Treatment
The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. [books.google.de]
Treatment - Scapuloperoneal syndrome- neurogenic- Kaeser type Not supplied. Resources - Scapuloperoneal syndrome- neurogenic- Kaeser type Not supplied. [checkorphan.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Prognosis
Prognosis - Scapuloperoneal syndrome- neurogenic- Kaeser type Not supplied. Treatment - Scapuloperoneal syndrome- neurogenic- Kaeser type Not supplied. Resources - Scapuloperoneal syndrome- neurogenic- Kaeser type Not supplied. [checkorphan.org]
See Prognosis for more information. [emedicine.medscape.com]
Etiology
Etiology unknown. Inheritance is either autosomal dominant or X-linked. It is clinically indistinguishable from Kugelberg-Welander (recessive). First described in 1886 by Brossard. Presented as a nosological entity in 1964 by Kaeser. [whonamedit.com]
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann. Neurol. 71, 141–145 (2012). 13. Hedberg, C., Melberg, A., Kuhl, A., Jenne, D. & Oldfors, A. [nature.com]
Epidemiology
This genomic organization provides a therapeutic pathway to promote SMN2, existing in all patients, to function like the missing SMN1 gene. [10] Epidemiology Frequency United States The spinal muscular atrophies are the second most common autosomal-recessive [emedicine.medscape.com]
Genetic- epidemiological studies in progressive muscular dystrophy. J. Med. Genet. 1971, 8: Remak, E. Uber die gelegentliche Gesichtsmuskulatur der juvenilen Fbrm Muskelatrophie. Neural. [docplayer.net]
Pathophysiology
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The cardiomyopathies are a group of disorders characterized by disease of the heart muscle. [mayomedicallaboratories.com]
Pathophysiology In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. [9] Each individual has 2 SMN genes, SMN1 and SMN2. [emedicine.medscape.com]
[…] the identification of the two forms of FSHD, the classical autosomal dominant FSHD type 1, and FSHD type 2 characterized by identical clinical phenotype but associated with a different (epi) genetic defect” and after “… FSHD1 and FSHD2 share a common pathophysiological [omicsonline.org]
Prevention
Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]
Prevention - Scapuloperoneal syndrome- neurogenic- Kaeser type Not supplied. [checkorphan.org]
Post-translational : ADP-ribosylation prevents ability to form intermediate filaments. {ECO:0000250}. [sinobiological.com]
Falls and spinal muscular atrophy: exploring cause and prevention. Muscle Nerve. 2013 Jan. 47(1):118-23. [Medline]. Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. [emedicine.medscape.com]