ALSTROM SYNDROME

ALTERNATE NAMES

ALMS; ALMS1; Alstrom-Halgren Syndrome; Alstrom syndrome 1

DESCRIPTION

Alstrom Syndrome (ALMS) is a rare genetic condition that results from a mutation of the ALMS1 gene. The condition affects multiple body systems.

ALMS is characterized by:

• a progressive loss of vision and hearing,

• a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy),

• obesity,

• Type 2 diabetes mellitus (the most common form of diabetes), and

• kidney (renal) dysfunction.

This disorder can also cause serious or life-threatening medical problems involving the liver, bladder, and lungs.

The signs and symptoms of ALMS vary in severity and may begin in infancy or early childhood, although some appear later in life. Some children may experience delays in attaining developmental milestones, but intelligence is usually unaffected.

Not all affected individuals have all of the characteristic features of the disorder.

DIAGNOSTIC

TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

The diagnosis is usually made clinically. Genetic testing can identify mutations in the ALMS1 gene in both parents.

Other diagnostic tests include:

• vision tests;

• hearing tests;

• heart function testing;

• blood and urine testing for liver dysfunction, renal failure; and

• blood sugar levels to diagnose hyperglycemia, thyroid function, and triglyceride levels.

Documentation of developmental delays may be helpful.

ICD-9: 759.89 (Other specified congenital anomalies)

ONSET AND PROGRESSION

Individuals with ALMS are likely to develop:

• deafness,

• blindness,

• complications from diabetes,

• worsening of kidney and liver function, and

• developmental delays.

TREATMENT

There is no cure for this condition. There is treatment for the symptoms of diabetes, hearing and visual aids, heart medications, and thyroid hormone replacement.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical examination, blood and urine tests, thyroid function studies, eye examinations and hearing examinations, and genetic testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

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