Peripheral Neuropathies

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.

Types of CMT

For axons and Schwann cells, communication is the key to a healthy relationship. Axons send chemical messages that attract Schwann cells and encourage myelin formation, and Schwann cells appear to send messages that nourish and protect axons. The various genetic defects that cause CMT often disrupt these interactions.

The many different types of Charcot-Marie-Tooth (CMT) are distinguished by age of onset, inheritance pattern, severity, and whether they're linked to defects in axon or myelin.

Overview

What is Charcot-Marie-Tooth disease (CMT)?

Illustration of systems affected by CMT
CMT causes degeneration of the peripheral nerves, leading to muscle weakness in the body’s extremities.

Research Briefs: Stem Cells

Stem cells are a hot topic these days in medicine, science and law, although the term has multiple meanings and it's easy to get confused.

In short, stem cells are cells at an early stage of development from which specialized cells, such as muscle or nerve cells, can develop (in other words, from which these specialized cells "stem").

Different kinds of stem cells are referred to as:

Researchers Exploring Disability Perceptions

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

Research Briefs: BMD, DMD, EDMD, FA, LGMD, OPMD, Pompe disease, SMA

Idebenone may help maintain respiratory function in DMD

Santhera Pharmaceuticals announced May 9, 2011, that its drug Catena (generic name idebenone) appears to slow the decline in respiratory function associated with aging in people with Duchenne muscular dystrophy (DMD). Idebenone may improve energy production in muscle and nerve cells.

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