Hauptmann-Thanheuser MD (Emery-Dreifuss Muscular Dystrophy)

Signs and Symptoms

What happens to someone with distal muscular dystrophy (DD)?

Typically, the first symptom of distal muscular dystrophy (DD) is weakness in the distal muscles — those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs. With time, other muscle groups may become affected as well.

Intellect isn’t affected in this disease.

Types of Distal MD

The distal dystrophies, or DDs, are caused by many different genetic defects, not all of which are yet known. Also, some of the DDs have been given different names based on various symptoms but may actually be caused by defects in the same gene.

Your own form of DD may or may not fit into one of these categories. Many of these diseases can vary from one person to the next, and in some cases, researchers are still in the process of sorting out what symptoms are linked to particular genetic defects.

Overview

Muscles affected in distal muscular dystrophy

What is distal muscular dystrophy (DD)?

Doubts about Tau

Abnormal accumulation of a protein called "tau" has been considered by many to contribute to muscle degeneration in inclusion-body myositis (IBM). But recently, MDA grantee Steven Greenberg and colleagues at Brigham and Women's Hospital and Harvard Medical School in Boston have cast doubt on this purported disease mechanism and say it's too early to develop drugs for IBM based on it.

Three-Protein Repair Cluster Identified

Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies.




Pages