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Alström syndrome

This is part of Rare diseases.

Diagnosis: Alström syndrome

Synonyms: Alström-Hallgren syndrome

Innehåll


Date of publication: 2014-10-09
Version: 3.0

The disease

Alström syndrome is a hereditary disease whose characteristics include severe early vision loss, hearing loss, heart disease, obesity, and type 2 diabetes. The disease was described for the first time in 1959 by Swedish professor of psychiatry, Carl-Henry Alström. The condition is also known as Alström-Hallgren syndrome. Bertil Hallgren was a Swedish geneticist and psychiatrist.

The syndrome belongs to a group of inherited diseases called ciliopathies. Cilia are microscopic, hair-like structures found on different types of cells in many organs. In Alström syndrome the normal functioning of the cilia is impaired. Information on some other ciliopathies is found in the Swedish National Board of Health and Welfare’s database of rare diseases. This includes information on Bardet-Biedl syndrome, Ellis-van Creveld syndrome, Joubert syndrome, orofaciodigitalt syndrome and primary ciliary dyskinesia.

Occurrence

There are no definite figures as to how many people have Alström syndrome. It is likely that its prevalence varies geographically. In Sweden, ten families with the disease have been identified and worldwide approximately 900 children and adults with the disease have been diagnosed.

Cause

The condition is caused by a mutation in a gene on chromosome 2 (2p13). This ALMS1 gene codes for the production of a protein (ALMS1) whose function is still not fully understood.

Cilia are hair-like structures found on nearly all the cells of the body and they play an important role in several cell functions. When motile cilia move, their sweeping movements help propel sperm as well as transporting intracellular material. The correct flow of fluid in the body is important for many functions including clearing mucus from the lungs and controlling left–right asymmetry in embryonic development. Non-motile, otherwise known as primary cilia, are involved in other cell functions including motility (movement without changing location), chemical sensation, and signal transduction (cellular signalling). Impaired ciliary function can lead to developmental abnormalities and deformities in many different organ systems.

Detailed studies have revealed that cilia are made up of at least four different functional complexes. In addition, there is a complicated system whereby hundreds of proteins work together to ensure that the transport, synthesis and breaking down of the constituent parts of the cilia function correctly. The exact importance of the defective proteins in Alström syndrome is not yet known. Research into Alström syndrome indicates that the ALMS1 protein is necessary in several cellular processes which take place in different types of tissue. This may explain why so many organs in people with Alström syndrome are affected.

Heredity

The inheritance pattern of Alström syndrome is autosomal recessive. This means that both parents are healthy carriers of a mutated gene. In each pregnancy with the same parents there is a 25 per cent risk that the child will inherit double copies of the mutated gene (one from each parent). In this case the child will have the disease. In 50 per cent of cases the child inherits only one mutated gene (from one parent only) and like both parents, will be a healthy carrier of the mutated gene. In 25 per cent of cases the child will not have the disease and will not be a carrier of the mutated gene.

Figure: Autosomal recessive inheritance

A person with an inherited autosomal recessive disease has two mutated genes. If this person has a child with a person who is not a carrier of the mutated gene, all the children will inherit the mutated gene but they will not have the disorder. If a person with an inherited autosomal recessive disease has children with a healthy carrier of the mutated gene (who has one mutated gene) there is a 50 per cent risk of the child having the disorder, and a 50 per cent risk of the child being a healthy carrier of the mutated gene.

Symptoms

Alström syndrome belongs to a group of disorders known as deafblind or dual sensory loss syndromes. Apart from deafblindness, in this group of syndromes the normal function of other organs may also be impaired. In Alström syndrome, multiple organ systems in the body may be affected. All individuals with the disease have impaired vision, hearing loss, obesity problems and susceptibility to infections, but the nature and severity of symptoms associated with the condition vary greatly. In general, the age of onset of symptoms follows the same pattern, although there can be major variations. An approximate time frame follows:

0 to 2 years

An early sign of Alström syndrome is sensitivity to light. For example, the infant may start to cry in bright surroundings. Another early symptom is nystagmus, an involuntary movement of the eye. The condition is caused by early vision loss. The infant’s weight will usually be above average on the growth chart for children of the same age.

Several serious symptoms may present during the first year of life, including dilated cardiomyopathy, heart muscle inflammation, and recurring pulmonary and respiratory tract infections. Dilated cardiomyopathy means that the heart is enlarged and weakened. As a consequence, its pumping function is also weakened, which may lead to heart failure. The child sometimes experiences breathing problems and asthma-like pulmonary symptoms. In Alström syndrome, heart disease may sometimes be mistaken for pneumonia. The reason is that symptoms of cardiomyopathy may be diffuse. When the heart’s ability to act as a pump deteriorates, this increases amounts of fluid in the lungs, which may be misinterpreted as a symptom of pneumonia or asthma. If the diagnosis and treatment of the condition are incorrect, the cardiac disease associated with it may become life-threatening. Children with Alström syndrome are more sensitive to infections than other children. The reason is as yet unknown.

2 to 4 years

During these years the diagnosis of retinitis pigmentosa (RP, degeneration of the retina and increased pigmentation) is confirmed. This is a disease causing gradual degeneration of the retina of the eye. As a result, the eye gradually loses its ability to capture and process light, night vision deteriorates and the child experiences loss of peripheral vision. The child may trip up more often than others and have trouble finding things. Vision will decline gradually, and to a greater or lesser degree, during these years. Children with Alström syndrome have abnormally large appetites, which leads to obesity.

As symptoms of Alström syndrome vary considerably and severe vision problems tend to be the focus of attention, early signs of hearing impairment or other symptoms may be overlooked.

4 to 6 years

Body weight increases, blood fat levels may be elevated and the child may develop insulin resistance, a precursor to type 2 diabetes. Hearing loss is now evident in all children with the syndrome. Balance may also be affected as a result of damage to the inner ear, and vision may also become impaired. The severity of auditory and balance problems varies greatly.

6 to 12 years

During these years, vision declines rapidly. The speed at which hearing deteriorates during this period varies.

Insulin resistance develops into type 2 diabetes, the first sign of diabetes often being abnormally pigmented patches of skin (acanthosis nigricans), especially at the back of the neck, the armpits and the groin. Blood fat levels increase and the function of the liver, kidney, and pancreas is affected, causing problems both with insulin production and with digestion. Gastrointestinal problems unrelated to pancreatic function may also develop. There may also be decreased thyroid function leading to fatigue, constipation and poor growth. Some children have high blood pressure.

Children with Alström syndrome may have weak muscles, curvature of the spine (scoliosis), flat feet, and short fingers. Dental abnormalities may present, including enamel defects, irregularly placed teeth and excessive space between teeth. Partial hair loss (alopecia) is another symptom associated with the syndrome.

12 to 18 years

Apart from retinitis pigmentosa, approximately half of those with Alström syndrome develop cataracts. To date (2014) most individuals affected by Alström syndrome have become blind as teenagers, some individuals retaining their sight until their late teens. Hearing loss becomes worse over time. Weight problems may persist or increase and shortness of stature is common. The syndrome affects other organs to a greater or lesser degree.

Cardiomyopathy presents differently in people with Alström syndrome than in others with heart disease. After occurring in early childhood symptoms may disappear, only to return at a later stage. This means that the heart may appear healthy during the teen years. Heart problems may present later in childhood or during the teens and are usually progressive.

Genital organs are sometimes underdeveloped or malformed and young people may not experience puberty.

Children with Alström syndrome may appear obstinate, having a compulsive relationship to food and abnormally large appetites, traits also associated with Prader-Willi syndrome. This disease is separately described in the rare disease database of the Swedish National Social Board of Health and Welfare. They may also have cognitive impairments, including learning disabilities and difficulties with abstract thinking. Some children have neurological symptoms such as epilepsy and coordination problems (ataxia).

Adult life

Though symptoms vary greatly, most adults with the syndrome experience increasing problems with obesity, high blood fat levels, high blood pressure and type 2 diabetes. Heart problems may recur, and can lead to heart failure. The disorder is therefore often associated with a shortened lifespan. Some individuals have reduced liver function.

Between the ages of 20 and 30 hearing impairment increases leading to deafness. Deafblindness may cause problems of inactivity and isolation. Those with the condition have difficulties communicating with those around them, leading to a limited social life and an increased risk of isolation.

Some individuals with the syndrome develop painful jaw conditions between the ages of 30 and 40, causing difficulties in opening the mouth, but the specific cause of these problems has not yet been identified.

In the majority of people with the syndrome fertility is impaired.

Diagnosis

Alström syndrome should be suspected in young infants with retinal disease in combination with other characteristic symptoms. Accurate diagnosis requires collaboration between a paediatrician, ophthalmologist, audiological physician/ENT specialist, and geneticist.

Retinitis pigmentosa can be diagnosed using an electroretinogram test (ERG). Ophthalmologic evaluation also includes tests of field vision, night vision, visual acuity, and an examination of the retina (fundoscopic examination).

Ultrasonography and ECG (electrocardiography) can be used to diagnose dilated cardiomyopathy. Blood tests indicate high blood fat and blood sugar levels, and tests for protein in the urine reveal poor kidney function.

Various audiology tests (audiometry) measure the degree of hearing impairment. These include brain stem audiometry and an otoacoustic emission test, which measures the response of outer hair cells in the ear, the auditory nerve and the brain stem.

The combination of rapidly declining eyesight and progressive hearing loss makes early diagnosis imperative. The earlier the diagnosis is established, the more successful habilitation is likely to be.

In most cases a DNA analysis is possible. At the time of diagnosis it is important that the family is offered genetic counselling. Carrier and prenatal diagnosis, as well as pre-implantation genetic diagnosis (PGD) in association with IVF (in vitro fertilization), are available to families where the mutation is known.

Treatment/interventions

There is currently no cure for Alström syndrome, but much can be done to alleviate symptoms and compensate for disabilities. Everyone with the syndrome requires contact with a paediatric medical specialist or specialist in internal medicine for regular checkups.

Where small children with the syndrome develop respiratory tract infections, they should be hospitalized as they need careful monitoring. Lack of oxygen (hypoxia) can occur very quickly and oxygen levels in the blood should be regularly checked. There is also a risk that cardiomyopathy is misdiagnosed as upper respiratory tract infection.

The medical treatment of heart failure may have serious side effects. For example, diabetes can become worse, or the kidneys may be affected. Surgical interventions, such as a pacemaker implantation or a heart transplant, may be carried out.

It is important to be vigilant to detect the first signs of retinitis pigmentosa. As most people with Alström syndrome become deaf later in life, they need to learn alternative forms of communication, including sign language and tactile communication.

Hearing impairment, like loss of vision, is progressive and requires hearing aids or, later in life, cochlear implants (CI). A cochlear implant consists of a speech processor (a small computer) that is worn behind the ear and an implant under the skin, also located behind the ear. The cochlear implant converts sound into coded electrical impulses. The signals are conducted by an electrode to the auditory nerve, which the brain interprets as sounds. Before the cochlear implant can be used the processor is individually programmed. These implants can restore hearing.

There should be regular monitoring of the heart, blood pressure, thyroid, and blood sugar and fat levels. Thyroid hormone (thyroxine) deficiency and high blood pressure can both be treated by tablets. Tablets can also be used to treat type 2 diabetes, but considerable improvement can also be achieved through weight loss, exercise, and stress reduction. In some cases insulin therapy is required.

Boys with the syndrome may need male hormone (testosterone) supplements.

Kidney function is monitored by blood tests. The liver is regularly monitored using blood tests and ultrasound examinations.

Diet management and exercise constitute an important part of treatment. Despite a good exercise programme and a strict diet it is still difficult to keep weight under control, but such programmes can help prevent type 2 diabetes. The diet should be balanced and include three main meals supplemented by healthy snacks. Horseback riding and spinning are forms of exercise well-suited to the visually impaired. Swimming and tandem cycling are other good examples.

In order to stimulate the child’s development and help compensate for loss of function, children and young people with the syndrome require habilitation, particularly directed at vision and hearing disabilities. For this reason the family should be offered early contact with a habilitation team. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. Help is available within the medical, educational, psychological, social and technical fields. Habilitation may include assessments, treatment, assistance with choice of aids, information about disabilities and counselling. It may also include information about support offered by the public authorities as well as advice on the way accommodation and other environments can be adapted to the child’s needs. Parents and siblings can also receive support.

Coordination of all these measures is vital. Where there are regional deafblind teams, they manage habilitation and rehabilitation. Early habilitation means that the child can learn both visual and tactile sign languages.

Support and treatment are planned from the individual’s needs. Habilitation varies over time but always takes place in collaboration with those close to the child or young person. There is close collaboration with the local authority, which can offer different forms of support in everyday life depending on the degree of disability.

The parents should be offered psychological support, both at the time of diagnosis and later. Children and young people with the syndrome should also be offered continuous psychological support adapted to their age and maturity. This should continue when they become older. Meeting other families with children in the same situation and sharing experiences with them can be valuable.

Adults with the syndrome require continued habilitation, particularly if they have vision and hearing impairments. Support from other medical specialists may also be required if other organs are affected.

Alström syndrome is a progressive disease which negatively affects life expectancy, but early diagnosis and treatment can significantly lengthen it.

Practical advice

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National and regional resources in Sweden

The Swedish Resource Center for Deafblindness (NKCdb). Contact Lena Göransson. Tel: +46 761 36 76 00, email: lena.goransson@nkcdb.se, www.nkcdb.se.

An expert team for the investigation and diagnosis of deafblindness is based at the Resource Center. Tel: +46 738 40 95 00, email: lil.falkensson@nkcdb.se or expertteamet@nkcdb.se.

Medical resources

Impaired hearing can be diagnosed in all larger regional hospitals with expertise in audiology. Operations to insert cochlear implants are performed at Swedish university hospitals.

Vision impairment is diagnosed using an electroretinogram test (ERG). This test is carried out at some Swedish university hospitals.

Metabolic diseases and other disorders associated with Alström syndrome are diagnosed and treated by a paediatric specialist or at regional hospital internal medicine departments.

If Alström syndrome is suspected Professor Claes Möller can be contacted for consultation at: Audiology Clinic/Swedish Institute for Disability Studies, Örebro University Hospital, SE-701 85 Örebro, Sweden. Tel: +46 19 602 37 99 (secretary Ann-Marie Helgstedt), email: claes.moller@orebroll.se.

Deafblind teams

The deafblind teams in the Stockholm, Västra Götaland and Skåne regions serve children, young people and adults with deafblindness, and combined visual and hearing impairments, and those close to them. The teams are responsible for habilitation and rehabilitaiton , and give advice and support in different issues related to disability. Other regional public authorities have resource persons or networks/teams who collaborate with vision and hearing services.

The Stockholm regional deafblind team
Tideliusgatan 12, Floor 4, SE-118 69 Stockholm, Sweden. Västra Entrén, Box 17056, SE-104 62 Stockholm, Sweden. Tel: +46 8 123 351 80 (telephone times: 9 to 12 AM, 1 to 4 PM). Text telephone: +46 8 123 496 50, fax: +46 8 123 496 10, email: dovblindteamet@sll.se.

The Västra Götaland region deafblind team
Ekelundsgatan 8, SE-411 18 Gothenburg, Sweden. Tel: +46 31 759 22 00, fax: +46 31 99 99 74, text telephone: +46 771 490 490, email: lisa.hoflin-bodebeck@vgregion.se.

The Skåne region deafblind team
Skåne University Hospital, Klinikgatan 18, SE-221 85 Lund, Sweden. Tel: +46 46 17 26 39, fax: +46 46 211 19 35, text tel: +46 46 77 06 38, email: horselochsyn@skane.se, www.skane.se/dovblind.

Educational resources

The Swedish National Agency for Special Needs Education and Schools provides information, advice and support in specialist areas to parents, pre-schools and schools. Box 1100,SE-871 29 Härnösand, Sweden. Tel: +46 10 473 50 00, fax: +46 10 472 66 42, text tel: +46 10 473 68 00, www.spsm.se.

The Swedish Resource Centre for Deafblindness is for children and adolescents born deafblind. Tel: +46 10 473 50 00, email: rc.dovblind@spsm.se.

There are six state-run special schools, five regional and one national, for deaf and hearing-impaired children in Sweden. The contact person at The Swedish National Agency for Special Needs Education and Schools with responsibility for deafblind issues at these schools is Inger Börjel, Development Coordinator. Tel: +46 10 473 68 61, email: inger.borjel@spsm.se.

Some local schools receive state funding for adaptations for deaf and hearing-impaired students.

Employment services

The Swedish Public Employment Service (Arbetsförmedlingen) provides a service for adults with a combined vision and hearing impairment as well as for visually impaired individuals who use sign language. Contact person: Christina Magnusson, tel: +46 10 486 69 15, email: christina.magnusson@arbetsformedlingen.se.

Resource personnel

Professor Claes Möller, Audiology Department/Swedish Institute for Disability Studies, University Hospital Örebro, SE-701 85 Örebro, Sweden. Tel: (secretary: Ann-Marie Helgstedt) +46 19 602 37 94, email: claes.moller@orebroll.se.

Professor Sten Andréasson, Eye Department, Skåne University Hospital/ Lund, SE-221 85 Lund, Sweden. Tel: +46 46 17 10 00, email: sten.andreasson@med.lu.se.

Katarina Hanséus, Paediatric cardiologist, Department of Paediatric Cardiology, Skåne University Hospital/Lund, SE-221 85 Lund, Sweden. Tel: +46 46 17 10 00, email: katarina.hanseus@skane.se.

Teacher of children with special needs, Berit Rönnåsen, The Swedish Resource Centre for Deafblindness, The Swedish National Agency for Special Needs Education and Schools, Box 1100, SE-871 29 Härnösand, Sweden. Tel: +46 10 473 51 91, email: berit.ronnasen@spsm.se.

Courses, exchanges of experience, recreation

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with disabilities and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. A number of programmes every year is also provided for adults with rare diseases. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Mo Gård Adult Education College offers signed, year-long courses in general subjects as well as special summer and short courses in sign language. The address is: Mertens väg, Box 5, SE-612 40 Finspång, Sweden. Tel: +46 10 471 66 00, email: info@mogard.se, www.mogard.se.

Västanvik Adult Education Centre offers courses for the deaf and hard of hearing: Winterommes väg 5, SE-793 27 Leksand, Sweden. Tel: +46 247 641 30, text telephone: +46 247 641 24, video telephone: vastanvik.pers@sip.omnitor.se, email: vastanvik@sdrf.se, www.vastanviksfhs.se.

Other adult education colleges in Sweden also offer courses. For further information see: www.folkhogskola.nu. Email: info@folkhogskola.nu or tel: +46 8 796 00 50.

Various patient associations organize courses and meetings.

Organizations for the disabled/patient associations

The Association of the Swedish Deafblind (FSDB), Sandsborgsvägen 52, SE-122 88 Enskede, Sweden. Tel: +46 8 39 90 00, email: fsdb@fsdb.org, www.fsdb.org. FSDB also has a division for young members, DBU, with the same address and telephone number. Email: dbu@dbu.nu.

DHB, The Swedish National Association for Deaf, Hearing-Impaired and Language-Impaired Children, Klostergatan 15, SE-703 61 Örebro, Sweden. Tel: +46 19 17 08 30, fax: +46 19 10 44 99, text tel: dial +46 19 19 68 90 and give the number 019122146*. Videophone: see website. Email: kansliet@dhb.se, www.dhb.se.

HRF, The Swedish Association of the Hard of Hearing, Gävlegatan 16, Box 6605, SE-113 84 Stockholm, Sweden. Tel: +46 8 457 55 00, text telephone: +46 8 457 55 01, fax: +46 8 457 55 03, email: hrf@hrf.se, www.hrf.se.

SDR, The Deaf Association of Sweden, Förmansvägen 2, SE-117 43 Stockholm, Sweden. Tel: +46 8 442 14 61, fax: +46 8 442 14 99. Video phone, see SDR website: www.sdr.org. Email: sdr@sdr.org.

SRF, The Swedish Association of the Visually Impaired, Sandsborgsvägen 52, SE-122 88 Enskede, Sweden. Tel: +46 8 39 90 00, fax: +46 8 39 93 22, email: info@srf.nu, www.srf.nu.

The Swedish RP (retinitis pigmentosa) Association, Gotlandsgatan 44, Box 4903, SE-116 94 Stockholm, Sweden. Email: adm@srpf.a.se, www.retina-sweden.se.

The Swedish Diabetes Association, Sturegatan 4A, Box 1107, SE-172 22 Sundbyberg, Sweden. Tel: +46 8 564 821 00, email: info@diabetes.se, www.diabetes.se.

There is a US organization, Alström Syndrome International (AIS), which organizes meetings for affected families alternate years. These occasions include lectures from physicians with specialist knowledge of the syndrome. For further information contact www.alstrom.org.

RareConnect is an international forum for people with rare diseases where they can exchange ideas and experiences. It offers the opportunity for people with Alström syndrome to meet others with the condition: www.rareconnect.org. RareConnect is owned and managed by two international umbrella organizations, The European Organization for Rare Diseases (EURORDIS) and a US organization, The National Organization for Rare Disorders (NORD).

Courses, exchanges of experience for personnel

The Swedish Resource Center for Deafblindness organizes basic and more advanced courses for personnel who, in the course of their work, come into contact with people with deafblindness. Contact Lena Göransson, tel: +46 761 36 76 00, email: lena.goransson@nkcdb.se, www.nkcdb.se.

During the Ågrenska Family Program weeks, training days are organized for personnel working with the children and young people participating. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

The Nordic Centre for Welfare and Social Issues (NVC), an organization under the authority of the Nordic Council of Ministers, organizes courses, www.nordicwelfare.org/dbkurser.

Research and development

The Jackson Laboratories in Maine in the US are carrying out research into Alström syndrome, www.alstrom.org.

Research into the syndrome is also under way at the Department of Audiology/Swedish Institute for Disability Studies, University Hospital Örebro, SE-701 85 Örebro, Sweden. More information is available from Professor Claes Möller. Tel: +46 19 602 37 94 (secretary Ann-Marie Helgstedt), email: claes.moller@orebroll.se.

Research is also carried out by the Swedish expert team with responsibility for diagnosing deafblindness. Tel: +46 738 40 95 00. Email: expertteamet@nkcdb.se.

Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. These leaflets may be ordered or printed out. (See under “Mer hos oss” in the right hand column.)

Newsletter from Ågrenska, nr 241 (2004). Order from: Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se. The newsletter is also available on www.agrenska.se.

Marshall JD, The Alström Syndrome Handbook, 2013. The book, in English, can be ordered via Alström Syndrome International, www.alstrom.org.

Literature

Alstrom CH, Hallgren B, Nilsson LB, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand 1959; 34: 1-35.

Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F et al. The progression from obesity to type 2 diabetes in Alström syndrome. Pediatr Diabetes 2012; 13: 59-67.

Citton V, Favaro A, Bettini V, Gabrieli J, Milan G, Greggio NA et al. Brain involvement in Alström Syndrome. Orphanet J Rare Dis 2013: 8; 24.

Corbetti F, Razzolini R, Bettini V, Marshall JD, Naggert J, Tona F et al. Alström syndrome: cardiac magnetic resonance findings. Int J Cardiol 2013; 167: 1257-63.

Collin GB, Marshall JD, Boerkoel CG, Levin AV, Weksberg R, Greenberg et al. Alstrom syndrome: further evidence for linkage to human chromosome 2p13. Hum Genet 1999; 105: 474-479.

Collin GB, Marshall JD, Cardon LR, Nishina PM. Homozygosity mapping at Alstrom syndrome to chromosome 2p. Hum Mol Genet 1997; 6: 213-219.

Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet 2002; 31: 74-78.

Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ et al. The Alström syndrome protein, LAMS1, intreacts with alfa-actinin and components of the endosome recycling pathway. PLoS One 2012; 7(5): e37925.

Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W. EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. BMC Pediatr 2013; 13: 130.

Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002; 31: 79-83.

Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C et al. Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Hum Mol Genet 2011; 20: 466-481.

Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N. The Alstrom syndrome: is it a rare or unknown disease? Ann Ital Med Int 2002; 17: 221-228.

Makaryus AN, Popowski B, Kort S, Paris Y, Mangion J. A rare case of Alstrom syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography. J Am Soc Echocardiogr 2003; 16: 194-196.

Malm E, Ponjavic V, Nishina PM, Naggert JK, Hinman EG, Andréasson S et al. Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome. Arch Opthalmol 2008; 126: 51-57.

Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet 2007; 15: 1193-1202.

Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK. Clinical utility gene card for: Alström Syndrome - update 2013. Eur J Hum Genet 2013; 21(11).

Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics 2011; 12: 225-235.

Paisey RB, Carey CM, Bower L, Marshall J, Taylor P, Maffei P et al. Hypertriglyceridaemia in Alstrom’s syndrome: causes and associations in 37 cases. Clin Endocrinol (Oxf.) 2004; 60: 228-231.

Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Alstrom syndrome. Report of 22 cases and literature review. Ophtalmology 1998; 105: 1274-1280.

Database references

OMIM (Online Mendelian Inheritance in Man)
www.ncbi.nlm.nih.gov/omim 
Search: alstrom syndrome

GeneReviews (University of Washington
www.genetests.org (select GeneReviews)
Search: alstrom syndrome

Orphanet (European database)
www.orpha.net 
Search: alström syndrome

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Professor Claes Möller, Örebro University Hospital, Sweden.

The relevant organizations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2014-10-09
Version: 3.0
Publication date of the Swedish version: 2014-04-15

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.

 

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