- Kugelberg-Welander disease
Name = Kugelberg-Welander disease / Spinal Muscular Atrophy type 3
ICD10 = ICD10|G|12|1|g|10
ICD9 = ICD9|335.11
OMIM = 158600
eMedicineSubj = pmr
eMedicineTopic = 62
DiseasesDB = 12315
MeshID = D014897
Kugelberg-Welander disease (also known as juvenile spinal muscular atrophy, spinal muscular atrophy type IIIcite 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 recessivemuscular 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=]
It is named for
Erik Kugelbergand 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=]
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
tremorof the fingers.
Treatment is symptomatic and supportive and includes treating
pneumonia, curvature of the spine and respiratory infections if present. Also, physical therapy, orthoticsupports, and rehabilitationare useful. Genetic counselingis imperative.
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.
* [http://www.fightsma.org Fight SMA / Andrew's Buddies]
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