Oculopharyngeal Muscular Dystrophy (OPMD)

Medical Management

Dysphagia

muscles of the eyelid
The purpose of a frontalis sling operation is to allow the frontalis muscle, which normally maintains its strength in OPMD, to open the eye.

Diagnosis

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

Symptoms of oculopharyngeal muscular dystrophy (OPMD) usually do not begin until the mid-40s or 50s, but can occur earlier. A person with OPMD may first notice drooping eyelids (a condition known as ptosis), which gradually lead to tipping the head backward to see properly.

Oculopharyngeal Muscular Dystrophy

Description: 

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

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

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

Edison drugs target FA, mitochondrial diseases

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.

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.

OPMD: Cystamine Strengthens Muscles in Mice

Scientists in the United Kingdom have found that mice carrying a genetic mutation that causes oculpharyngeal muscular dystrophy (OPMD) in humans and showing a disease resembling human OPMD benefited from treatment with a chemical called cystamine, provided in their drinking water.

About the new findings

David Rubinsztein and colleagues at the University of Cambridge announced their findings June 2, 2010, in Science Translational Medicine.

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