Introduction to the Professional

Welcome to the world of Alstrom Syndrome!  As you already know, Alstrom syndrome is a very complex condition with multiple challenges for management and monitoring.  

We often receive inquiries from professionals who are working with an individual with Alstrom Syndrome looking for information. 

Unfortunately, because of the rarity of Alstrom, medical information is scarce and  we are only beginning to bring together the knowledge for physicians, educators, and other specialists who work with individuals with Alstrom Syndrome.  Since the identification of the gene causing Alstrom Syndrome (ALMS1) in 2000, there is now more interest and an increasing body of information.

If you are interested in more detailed medical information, see the comprehensive summary at  European Journal Human Genetics (Practical Genetics) Review Article .   

If you have a patient with Alstrom Syndrome and would like to participate in research, we maintain an ongoing registry and database of patients in more than 45 different countries.  Please contact me at jan.marshall@jax.org  

We are always eager to obtain clinical information about any patient with Alstrom syndrome.  If you wish to contribute to this effort, please see the documents below:

 CLINICAL DATA QUESTIONNAIRE

INFORMED CONSENT FOR PARTICIPATION IN RESEARCH

 Jan D. Marshall
Chair, Scientific Advisory Board
Alstrom Syndrome International
ALSTROM SYNDROME INTERNATIONAL SCIENTIFIC ADVISORY BOARD

 

International Scientific Conference Padua 2008  Abstracts  
Slide show - courtesy of C. Pagano, MD 

 

The following clinical evaluations are important for patients with Alström Syndrome.  Additional Guidelines

• Assessment of vision, ERG during childhood
• Audiometry yearly
• Height/weight, BMI
• Heart function tests, ECG and echocardiography yearly or every 6 months, if indicated
• Fasting glucose, insulin
• Blood pressure
• Liver ultrasonography
• Serum chemistry for
  • renal function (creatinine, uric acid, creatinine-clearance, BUN)
  • liver function (ALT, AST, GGT)
  • lipid panel (cholesterol, triglycerides)
• Thyroid function (TSH, T4); look for sub-clinical hypothyroidism
• Gastrointestinal function, esophageal reflux
• Gonadal function (LH, FSH, testosterone)
• Pulmonary function tests
• Assess any urological dysfunction
• Skeletal abnormalities, scoliosis, kyphosis
• Neurological evaluation (absense seizures, ataxia)

 

Urgent information about oxygen saturation

Important Urgent information  For patients with Alström Syndrome admitted to the hospital or outpatient facilities, even if for routine minor surgery, it is vitally important that medical and nursing staff is aware that hypoxia (low blood oxygen levels) can occur very rapidly in patients with Alström Syndrome.   In some patients, this has lead to life threatening heart/lung problems because of the reduced reserve capacity of the cardio respiratory system.  Please use all precautions for monitoring oxygen saturation.

MEDICAL LITERATURE

An up to date complete listing of medical literature on the subject of Alstrom Syndrome.  New references are highlighted and the most relevant reviews are indicated.

GENETIC TESTING

The Jackson Laboratory, Bar Harbor ME USA
Genetic evaluation on a research basis: 
contact: jan.marshall@jax.org

Centro Genetica Clinica, Porto, Portugal  
Sequencing of Selected exons (exon 16, 10, and part of exon 8):
contact: molecular@cgc.pt

AsperBiotech, Toru, Estonia
Microarray screening for all known ALMS1 and BBS mutations
www.asperbiotech.com