Amylose of the transthyrétine

The amylose of the transthyrétine or amyloïdose of the transthyrétine is a Amyloïdose characterized by a sensitive and driving neuropathy and autonomous Nervous system; the Kidney S, the eyes, the Heart and the Nervous system are also reached by this pathology.

The first signs of the disease begin towards the 30,40 years age but can occur earlier. The foot generally is reached with hoop nets sensitive followed by driving disorders. The demonstrations reaching the autonomous nervous system include/understand the orthostatic Hypotension, the Constipation alternating with Diarrhée S, disorders sexual, a Anhidrose, disorders sexual or urinary like a Retention of urine or a urinary Incontinence.
The attack of the heart results in a Cardiomyopathie.
The attack of the central Nervous system appears by a Démence, a Psychose, Céphalée S, a epilepsy, a Ataxie, a Hydrocéphalie or brain hemorrhages.

Other names

Etiology

Incidence & prevalence

Description

Diagnosis

Differential diagnosis

Treatment & assumption of responsibility

The genetic Council

Mode of transmission

It is about a dominant autosomic Transmission.

Sources

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 176300 * Kunihiro Yoshida, Takahiko Tokuda, Shu-Ichi Ikeda, Transthyretin Amyloidosis In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2005.

Associations

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