Kugelberg-Welander disease
- Kugelberg-Welander disease
DiseaseDisorder infobox
Name = Kugelberg-Welander disease / Spinal Muscular Atrophy type 3
ICD10 = ICD10|G|12|1|g|10
ICD9 = ICD9|335.11
ICDO =
Caption =
OMIM = 158600
MedlinePlus =
eMedicineSubj = pmr
eMedicineTopic = 62
DiseasesDB = 12315
MeshID = D014897
Kugelberg-Welander disease (also known as juvenile spinal muscular atrophy, spinal muscular atrophy type III[cite journal |author=Kuru S, Sakai M, Konagaya M, Yoshida M, Hashizume Y, Saito K |title=An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease) |journal=Neuropathology |volume= |issue= |pages= |year=2008 |month=April |pmid=18410269 |doi=10.1111/j.1440-1789.2008.00910.x |url=http://dx.doi.org/10.1111/j.1440-1789.2008.00910.x] ) is an autosomal recessive muscular disease. It is a form of spinal muscular atrophy, or SMA. ]It is also known as "hereditary proximal spinal muscular atrophy".[cite journal |author=Garvie JM, Woolf AL |title=Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy) |journal=Br Med J |volume=1 |issue=5501 |pages=1458–61 |year=1966 |month=June |pmid=5933049 |doi= |url=] ]Eponym
It is named for Erik Kugelberg and Lisa Welander. [WhoNamedIt|synd|1234] [cite journal |author=Kugelberg E, Welander L |title=Heredofamilial juvenile muscular atrophy simulating muscular dystrophy |journal=AMA Arch Neurol Psychiatry |volume=75 |issue=5 |pages=500–9 |year=1956 |month=May |pmid=13312732 |doi= |url=] ]Presentation
It appears between 2 and 17 years of age, and include abnormal manner of walking; difficulty running, climbing steps or rising from a chair and slight tremor of the fingers.
Treatment
Treatment is symptomatic and supportive and includes treating pneumonia, curvature of the spine and respiratory infections if present. Also, physical therapy, orthotic supports, and rehabilitation are useful. Genetic counseling is imperative.
Prognosis
Children with Kugelberg-Welander disease / spinal muscular atrophy type 3 may appear "normal" until they are five or 10 or even older. These children achieve independent walking and their weakness may be so mild that medical attention is not sought for years. Many children have a very benign course and may remain ambulatory for decades after the onset of symptoms. Other patients exhibit slowly progressive symptoms resulting in a loss of independent walking. Respiratory complications are uncommon and swallowing problems are rarely encountered.
References
External links
*
* [http://www.fightsma.org Fight SMA / Andrew's Buddies]
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Look at other dictionaries:
Kugelberg-Welander disease — Ku·gel·berg Wel·an·der disease kü gəl .bərg vel ən dər n muscular weakness and atrophy that is caused by degeneration of motor neurons in the ventral horn of the spinal cord, is usu. inherited as an autosomal recessive trait, and that becomes… … Medical dictionary
Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… … Medical dictionary
Kugelberg — Eric, Swedish neurologist, 1913–1983. See K. Welander disease, Wohlfart K. Welander disease … Medical dictionary
Welander — Lisa, Swedish neurologist, *1909. See Kugelberg W. disease, Wohlfart Kugelberg W. disease … Medical dictionary
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nervous system disease — Introduction any of the diseases or disorders that affect the functioning of the human nervous system (nervous system, human). Everything that humans sense, consider, and effect and all the unlearned reflexes of the body depend on the… … Universalium
Atrophy — Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass. A nerve can also show atrophy. For example, atrophy of the optic nerve diminishes vision. * * * A wasting of tissues, organs, or the entire body, as from… … Medical dictionary
spinal muscular atrophy — n any of several inherited disorders (as Kugelberg Welander disease) that are characterized by the degeneration of motor neurons in the spinal cord resulting in muscular weakness and atrophy and that in some forms (as Werdnig Hoffmann disease)… … Medical dictionary
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