Syndrome myopathy with inclusions - disease of Paget - fronto-temporal insanity

The syndrome myopathy with inclusions - disease of Paget - fronto-temporal insanity is characterized by weaknesses of the distal and proximaux muscles occurring at the beginning of the adulthood, a Maladie of Paget of occurred early and a fronto-temporal Syndrome.

The muscular weakness implies all the muscles including the respiratory muscles and the cardiac muscle with appearance of a hypokinetic cardiomyopathy dilated in the late phase of the maladie.
The disease of Paget leads to pains of the hips or back with deformation of the bones longs.
The first signs of the Démence fronto temporal are disorders of the sense of smell, mental calculation, disorders of comprehension with the mémorielle function preserved at the beginning. Later, there is disappearance of the verbal function, a total disorder of comprehension, an impossibility of the simple gestures, reading and writing.

The Middle Age of the diagnosis is 42 years for the muscular disorders and the disease of Paget and 55 years for fronto-temporal insanity.

The diagnosis of this disease is done on the clinical signs, biological and of the medical imagery. The sequencing of the Gène finds the Mutation in 100% of the cases. Ten changes are known interesting the Exon S 3,5,6 and 10.

Sources

Virginia Kimonis, Gilles Watts: Inclusion Body Myopathy with Paget Disease off Bone and/or Frontotemporal Dementia GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2007.

References

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