Peripheral Neuropathies

Leanne Beers: Mom with DS 'Thrives on Life'

When talking with Leanne Beers of Missoula, Mont., you can’t help thinking that this is one upbeat, optimistic woman.

“Even though you have muscular dystrophy, or any limitation for that matter,” she says, “it doesn’t mean you can’t accomplish the goals you want. You just may have to go about it differently. There’s no reason you can’t be happy and thrive on life.”

Induced Stem Cells Require Cautious Approach

Stem cells have been much in the news lately, including for neuromuscular diseases.

MDA Awards $13.7 Million in Research Grants

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.

The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Diagnosis

A combination of lower leg weakness and foot deformities is a red flag for Charcot-Marie-Tooth disease (CMT) but isn’t sufficient for diagnosis. When a patient has those symptoms, a neurologist will usually start with a physical exam to look for further signs of distal weakness and sensory loss.

As a test for leg weakness, a neurologist might ask patients to walk on their heels or move part of their leg against an opposing force.

Congenital Hypomyelinating Neuropathy (CHN)

What is Congenital Hypomyelinating Neuropathy (CHN)?

CHN is a subtype of Charcot-Marie-Tooth disease (CMT), a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs.

Dejerine-Sottas disease

What is Dejerine-Sottas disease?

Dejerene-Sottas (DS) is a subtype of Charcot-Marie-Tooth disease (CMT), a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs. DS is named for Joseph Dejerine and Jules Sottas, French neurologists who first described the disorder in 1893.

CMT4

What is Charcot-Marie-Tooth disease type 4 (CMT4)?

CMT4 is a subtype of CMT, a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs.

CMTX

What is Charcot-Marie-Tooth disease type X (CMTX)?

CMTX is a subtype of CMT, a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs.

CMT1-CMT2

What are Charcot-Marie-Tooth disease type 1 (CMT1) and type 2 (CMT2)?

These are the two most common forms of CMT, a genetic, neurological disorder that causes damage to the peripheral nerves — tracts of nerve cell fibers that connect the brain and spinal cord to muscles and sensory organs.

A subtype of CMT1, called CMT1A (caused by a defect in the PMP22 gene on chromosome 17) accounts for around 60 percent of all CMT cases.

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