Distal Muscular Dystrophy (DD)

Diagnosis

What tests are used to diagnose distal muscular dystrophy (DD)?

In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Much can be learned from these, including the pattern of weakness. The history and physical go a long way toward making the diagnosis, even before any complicated diagnostic tests are done.

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)?

Distal Muscular Dystrophy

Description: 

MDA leads the search for treatments and therapies for distal muscular dystrophy (DD). The Association also provides comprehensive supports and expert clinical care for those living with DD.

In this section, you’ll find up-to-date information about distal muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

In addition to facts about DD in general, this website contains information about the following seven types:

MDA Conference Brings Together Researchers, Clinicians, Industry

Moving therapeutic strategies from the laboratory to clinical trials and ultimately to the market as treatments was the theme of the MDA National Scientific Conference held March 13-16, 2011, in Las Vegas.

Some 300 people attended the conference, the first in a planned series of such MDA-sponsored meetings that will emphasize new research and current medical care. The majority of presenters and many of the audience members were current or former MDA research grantees or physicians at MDA-supported clinics.

Study Seeks People With Uncertain MD Diagnoses

A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.

Causative Gene Mutations ID'd for Two Muscle Diseases

An MDA-supported, multinational team of researchers from Canada and Europe has identified specific mutations in the anoctamin 5 (ANO5) gene on chromosome 11 that can cause type 2L limb-girdle muscular dystrophy (LGMD2L) and type 3 Miyoshi myopathy.

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.




MD Research: Muscle-Repair Booster

In experiments in mice, Michael Rudnicki, an MDA grantee at the Sprott Center for Stem Cell Research at Ottawa Hospital Research Institute (OHRI), and colleagues, found the WNT7a protein stimulates muscle repair by causing proliferation (an increase in number) of "satellite stem cells." They say the protein probably operates similarly in humans. The findings were published June 5, 2009, in the journal Cell Stem Cell.

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