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Diseases » Nathalie syndrome » Summary
 

What is Nathalie syndrome?

What is Nathalie syndrome?

  • Nathalie syndrome: A very rare condition described in four children of one family. The condition is characterized by wasting of the spine muscles, abnormal heart electrical activity, cataracts, hypogonadism and hearing impairment.

Nathalie syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Nathalie syndrome, or a subtype of Nathalie syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Nathalie syndrome as a "rare disease".
Source - Orphanet

Nathalie syndrome: Introduction

Types of Nathalie syndrome:

Broader types of Nathalie syndrome:

How serious is Nathalie syndrome?

Prognosis of Nathalie syndrome: Muscle wasting starts during the second decade of life and progresses slowly. Hearing loss starts within the first five years of life and progresses slowly. The condition causes serious disability and the long-term prognosis is unknown.
Complications of Nathalie syndrome: see complications of Nathalie syndrome

What causes Nathalie syndrome?

Causes of Nathalie syndrome: see causes of Nathalie syndrome

What are the symptoms of Nathalie syndrome?

Symptoms of Nathalie syndrome: see symptoms of Nathalie syndrome

Complications of Nathalie syndrome: see complications of Nathalie syndrome

Nathalie syndrome: Testing

Diagnostic testing: see tests for Nathalie syndrome.

Misdiagnosis: see misdiagnosis and Nathalie syndrome.

How is it treated?

Doctors and Medical Specialists for Nathalie syndrome: Medical Geneticist ; see also doctors and medical specialists for Nathalie syndrome.
Treatments for Nathalie syndrome: see treatments for Nathalie syndrome

Name and Aliases of Nathalie syndrome

Main name of condition: Nathalie syndrome

Other names or spellings for Nathalie syndrome:

deafness [cataracts - skeletal anomalies], Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, Spinal Muscular Atrophy [Cardiac Conduction disorder - Cataracts - Hypogonadism - Sensorineural Hearing Loss]

Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Nathalie syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Nathalie syndrome:

 

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