Re: cmt roussy-levy syndrome

[Guest guest]

One simple way I saw it was that RL CMT was CMT Type 1 with tremors. I

think it was back in 1921 when Roussy and Levy (2 doctors) gave it this

name. More intense information can be found on Medline or Pub Med - like

research, etc. ~ G

try this http://www.icomm.ca/geneinfo/roussy.htm

Roussy-Levy Syndrome

also known as:

Charcot-Marie-Tooth Disease (Variant)

Charcot-Marie-Tooth-Roussy-Levy Disease

Hereditary Areflexic Dystasia

Hereditary Motor Sensory Neuropathy

Hereditary Motor Sensory Neuropathy I

HMSN I

as defined by the National Organization for Rare Disorders)

Roussy-Levy Syndrome, also known as hereditary areflexic dystasia, is a

rare genetic neuromuscular disorder that typically becomes apparent

during early childhood.

The disorder is characterized by incoordination, poor judgment of

movements (sensory ataxia), and absence of reflexes (areflexia) of the

lower legs and, eventually, the

hands; weakness and degeneration (atrophy) of muscles of the lower legs;

abnormally high arches of the feet with increased extension of the toes

(pes cavus or " clawfoot " ); and tremors of the hands.

Many affected individuals also have an abnormal front-to-back and

sideways curvature of the spine (kyphoscoliosis).

In individuals with Roussy-Levy Syndrome, there is a failed

communication of certain nerve signals to muscles of the lower legs

(denervation).

Roussy-Levy Syndrome is inherited as an autosomal dominant genetic

trait.