Find information on thousands of medical conditions and prescription drugs.

Salla disease

Salla disease (or Finnish type sialuria) is a syndrome leading to early physical impairment and mental retardation. This is due to a mutation in chromosome 6 (a recessive allele in the gene SLC17A5 the locus of which is 6q14-15). more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
Sabinas brittle hair...
Saccharopinuria
Sacral agenesis
Saethre-Chotzen syndrome
Salla disease
Salmonellosis
Sandhoff disease
Sanfilippo syndrome
Sarcoidosis
Say Meyer syndrome
Scabies
Scabiophobia
Scarlet fever
Schamberg disease...
Schistosomiasis
Schizencephaly
Schizophrenia
Schmitt Gillenwater Kelly...
Sciatica
Scimitar syndrome
Sciophobia
Scleroderma
Scrapie
Scurvy
Selachophobia
Selective mutism
Seminoma
Sensorineural hearing loss
Seplophobia
Sepsis
Septo-optic dysplasia
Serum sickness
Severe acute respiratory...
Severe combined...
Sezary syndrome
Sheehan syndrome
Shigellosis
Shingles
Shock
Short bowel syndrome
Short QT syndrome
Shprintzen syndrome
Shulman-Upshaw syndrome
Shwachman syndrome
Shwachman-Diamond syndrome
Shy-Drager syndrome
Sialidosis
Sickle-cell disease
Sickle-cell disease
Sickle-cell disease
Siderosis
Silicosis
Silver-Russell dwarfism
Sipple syndrome
Sirenomelia
Sjogren's syndrome
Sly syndrome
Smallpox
Smith-Magenis Syndrome
Sociophobia
Soft tissue sarcoma
Somniphobia
Sotos syndrome
Spasmodic dysphonia
Spasmodic torticollis
Spherocytosis
Sphingolipidosis
Spinal cord injury
Spinal muscular atrophy
Spinal shock
Spinal stenosis
Spinocerebellar ataxia
Splenic-flexure syndrome
Splenomegaly
Spondylitis
Spondyloepiphyseal...
Spondylometaphyseal...
Sporotrichosis
Squamous cell carcinoma
St. Anthony's fire
Stein-Leventhal syndrome
Stevens-Johnson syndrome
Stickler syndrome
Stiff man syndrome
Still's disease
Stomach cancer
Stomatitis
Strabismus
Strep throat
Strongyloidiasis
Strumpell-lorrain disease
Sturge-Weber syndrome
Subacute sclerosing...
Sudden infant death syndrome
Sugarman syndrome
Sweet syndrome
Swimmer's ear
Swyer syndrome
Sydenham's chorea
Syncope
Syndactyly
Syndrome X
Synovial osteochondromatosis
Synovial sarcoma
Synovitis
Syphilis
Syringomas
Syringomyelia
Systemic carnitine...
Systemic lupus erythematosus
Systemic mastocytosis
Systemic sclerosis
T
U
V
W
X
Y
Z
Medicines

This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.

First described by P Aula et al. in 1979, Salla disease is named after Salla, a municipality in Finnish Lapland. It is one of nearly 40 diseases that make up the Finnish disease heritage. The majority of 100 Salla disease patients in Finland live in Salla or neighboring municipalities; there are maybe 30-40 patients living abroad, majority of them (one source says 27) in Sweden.

Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia and cognitive impairment. The most severely impaired children do not ambulate or acquire language, but they do typically learn to walk and speak and have normal life expectancy. The MRI shows arrested or delayed myelination.

Read more at Wikipedia.org


[List your site here Free!]


What do you call a slow reindeer? A steak. Get running, Rudolph
From Independent, The (London), 12/20/98 by Kevin Pilley

THE BEST way to see the Northern Lights at their spectacular best is to crash head-on into a Finnish pine tree at 40mph. The sky immediately becomes a swirling kaleidoscope of unforgettable colours.

Unbridled tourism has now come to the land of the sun. Snowmobile safaris and husky sledding trips now face stiff competition from self-drive reindeer excursions. Up in north Finland you can now hop onto a polka (sled) and hurtle around the Lemmenjoki National Park and wilderness areas of Hammasstunturi, Tsarmitunturi and Vatsari with a free-range lichen-fuelled arctic unguent as your guide - off- roading on a reindeer. As one promotional flyer in a local hotel foyer proclaimed: "Trips can be endured for a full day or a half day." There are few things more exhilarating than being behind a bolting reindeer and feeling the wind and overhanging branches of a major coniferous zone raking back your hair.

The main reindeer rank is in Inari which is nearer to Murmansk than Helsinki. It is an hour-and-half-flight up to the nearest airport at Ivalo followed by an hour's drive. It takes a day-and-a- half from Helsinki by public transport. Imari is the capital of the Sami mountain people and the reindeer capital of the world. Everyone is a second-hand caribou salesman and all the restaurants sell reindeer parts. It is rather unnerving to ask a waiter or waitress what they can offer and be told "Tongue or bum, anyway you like". But just as you need a local beaver hunting and ice fishing permit you also require a reindeer driving licence, which entails sitting a proficiency test. This means proving you know your way around a reindeer which means pointing to where the horn is. You also must demonstrate to your examiner that you are capable of controlling a speeding reindeer. You must do an emergency stop. Reindeer can burn slush when they want. Especially if pursued by a rakka or large swarm of hungry horseflies. The secret of driving a reindeer is that there is no secret at all. Because they have peripheral vision flapping your arms is enough to get them motoring. The emergency stop is largely up to the reindeer and whether it passes a tasty roadside dwarf shrub. Then it will usually screech to a skidding halt. Otherwise, as my instructor Mikko told me, all you need is a lot of upper body strength and, failing that, a lot of ammunition. He should know. He is a professional reindeer jockey. For three months a year, he travels around Lapland competing in reindeer racing meets. The season starts in November. It is a popular sport in north Finland. Lapps like a flutter on a reindeer and the race everyone bets on and wants to win is the Kingship Cup held over three kilometres every April. It is the biggest race and highlight of the Sami social calendar. Their Ascot. Everyone dresses up, analyses the form and listens to the "whispers." More than pounds 13,000 is punted on the race trackside. Last year the world's oldest and most prestigious reindeer race was won by Pikkamusta, a seven-year arctic mountain reindeer stag from Inari. It was his third successive win and made him one of the greatest racing reindeers of all time alongside immortals like Tupsuniska, Remu, Mustahurma, Tilikku and the great Valkko. His jockey, Asla Akio, joined legends such as Seppi Kolvisto and Tevvo Asstinireh. He is Lapland's answer to Lester Piggot. The first prize for the coveted Kingship Cup, or Kuninkuusajot, is 10,000 Finnish Markkas (around pounds 1200) and a year's supply of reindeer feed. "The Little Black One", trained by Nakkalaiarvi A Juhan, beat twenty-three other thoroughbreds with a combined time of three minutes 51.2 seconds over one kilometre and two kilometres. Ivalo's Jarmo Mikkola came second and third on Trimmi and Hesselainen (the goofy one) securing the Ajola Cup for the season's most successful top jockey. The much-fancied Napoleon came nowhere. "It is our Mardi Gras," explains Vesa Bergman of The Association of Reindeer Herding Co-operatives. "It is a carnival and a great social occasion. Everyone wears their best hats! It is a fashion parade. Costumes identify certain areas like Utsjoki , Enontekio , Vuotso and Inari where reindeer racing is a religion. Finnish Lapland is the only place where reindeers race pulling their jockeys behind them on skis!" Over 600 spectators attended the race in sub-zero temperatures. There were junior races as well as a relay for reindeer herding families. More than 150 reindeer took part. All had their antlers removed to make them more aero-dynamic and less dangerous. The first Kingship race was run in 1950 but competitive reindeer racing goes back to the 17th century when Lapps raced each other to church to get the best seats. Brides were never late for their weddings because there was always a race against the bridegroom. Weekly markets also provided an excuse for a cross-country competition. "It is the Finnish four-legged Grand Prix," continues Mr Bergman, course steward and starter. "We take it very seriously. It is very tactical. Owners and trainers walk the course with the jockeys and the grooms psyche up the runners. The reindeers are trained to peak fitness. They can achieve speeds of 35km per hour. I have seen owners giving their animals massages and whispering last minute instructions in their ear. A fraction of a second can be the difference between winning and losing. A good jockey is vital. The best are local celebrities." Finland has more than 500 registered racing reindeers and 100 professional jockeys. Races are on the flat. There are no steeplechases. The other big race is the "Gold Watch" held in Rovaniemi. Other important meets include Ivalo, Salla, Lankojarvi and Panumajarvi. The Kingship is the last of the season in which the top two-dozen reindeers and riders in the order of merit compete against each other and the clock on Inari's lake. The best time for the 1km course is one minute 15 seconds. Two minutes 31.9 seconds is the world record for two kilometres. Maud Nieminen is a leading reindeer racing pundit. A sort of Sami Brough Scott. "Since the beginning of the Christian era reindeers have been used as decoys in deer hunting and as draft and pack animals," she says. "The first written record of reindeers dates from 499AD. Reindeer husbandry for meat production came into being during the late Middle Ages. The Reindeer Parliament meets every May." One hundred and fifty thousand reindeer are slaughtered each year, producing 3.5 million kilos of meat selling at 30 markkas per kilo. Pikkamusta the hero is safe for the time being. He is protected by the Reindeer Parliament. In 1898 the Finnish Senate insisted that herders set up clearly demarcated herding co-operatives. The Reindeer Herding Law was passed in 1932. This defined an official herding area of 114,000 square kilometres with a southern boundary following the Kiiminki River and a northern border ending at Kuhmpo. Any Finnish citizen in this area may own reindeer. There are now nearly 8,000 reindeer owners, sixty herding co-operatives or paliskunta and 250,000 reindeer. The Reindeer Parliament meets at the end of the herding year in May. The Association of Reindeer Herding Co-operatives is responsible for fencing the national borders and registering owners' ear-marks. Each reindeer has a notch cut in its ear to identify it. There are twenty different words and 10,000 marks in use. About 150,000 reindeer are marked annually in June. There are winter and autumn roundups. Planes and four-wheel drive vehicles are now used. Autumn means mating and the rutting season begins at the end of August. Calving time is around St Eric's Day (18 May). A calf weighs 5-7kg at birth and doubles its weight within a month. At one time reindeer milk was used to make cheese and to treat allergies. Reindeer feed on bogbean, water horsetail, goldenrod and hay. Riverside meadows are the favoured grazing grounds in summer. Lichen and mushrooms are the favourite winter forage. The profitability of reindeer farming is largely due to reindeer being able to find their own food in winter. Reindeer meat could be the next pan-European health food fad. Fat content is very low and protein levels high. Reindeer blood is also rich in polyunsaturated fats and has five times more vitamin C than beef. The selenium-rich meat is thought to prevent cancer and heart disease. Liver, kidney and tongue are also eaten. The fur is made into rugs. Tree felling and forestry work has meant a reduction in lichen. In cultivated areas the snow becomes harder without protection from wind, which means the reindeers cannot find food so easily. More than 4,000 animals are killed every year by traffic. The National Board of Railroads compensates owners for reindeers killed by trains. Predators include bears, wolves and eagles. The first reindeer research post was set up in 1980 at the Finnish Aame and Fisheries Institute. Reindeer herding is taught at the Sami regional Training Centre at Inari. The Kingship weekend is a celebration of Sami culture and the sons and daughters of the sun. Sami has its own radio station and two Sami language newspapers are published in Norway. In 1994 high school pupils were allowed to sit exams in their mother tongue for the first time. A Sami parliament has sat since 1973 and the Sami people have had their own flag since 1986. Their National Day is 6 February - but their biggest party is the Kingship race weekend. The trainer and owner of Pikkamusta hopes to equal the record of Paavo Martin who won the Kingship Cup seven times. "It is a good life for racing reindeer," he says. "They live longer, they are fed better and they have a better love life. If they do not perform they know they will be castrated, slaughtered and sauteed." But Pikkamusta is part of the family. He is a hero of the wilderness. He is the Red Rum of Muotkantunturi - the most famous sports personality. He is almost as famous as Eeero Magga, Lapland's most popular singer and cabaret act. He takes his inspiration from the land of the sun. His 70 minute turn consists of love songs about reindeers and paeans on reindeer herding. And nothing else. I bought a CD of his greatest hits. FACT FILE reindeer racing Getting there Finnair (tel: 0171-408 1222) offers flights to Ivalo from pounds 280. Norvista (tel: 0171-409 7334), the specialist Scandinavian operator, has tailor- made breaks to the Inari and Ivalo area Further information The Finnish Tourist Board is at 30-35 Pall Mall, London SW1Y 5LP (tel: 0171-839 4048). Reindeer meets take place throughout winter, up to April. The major reindeer derby occurs in April

Copyright 1998 Newspaper Publishing PLC
Provided by ProQuest Information and Learning Company. All rights Reserved.

Return to Salla disease
Home Contact Resources Exchange Links ebay