cases of left ventricular noncompaction have been seen in association with a neuromuscular disorder, including MMD1. They recommend careful followup of MMD2 patients for cardiac complications.

A new study says brain MRI abnormalities known as “white matter lesions,” known to be common in type 1 myotonic dystophy (MMD1,

The brains of family members with myotonic dystrophy may have more in common than those of people with the same size genetic defect or other shared disease characteristics.

or DM1), are more similar among family members affected by the disease than they are among people who share other disease characteristics, such as the size of the DNA abnormality that causes their disease.

Alfonso Di Costanzo at the University of Molise in Campobasso, Italy, and colleagues, who published their findings in the April issue of Neuromuscular Disorders, studied 60 people ( 30 of each gender) with the noncongenital form of MMD1. Each of the study participants, who came from 22 families, had at least two close relatives who also were affected.

When they analyzed the extent and location of the brain abnormalities in the study participants, the researchers found these were not correlated with the person’s gender or age at MMD1 onset, or with the gender of the parent from whom the disease was inherited; nor did they correlate with the size of the MMD1- causing DNA expansion, measured in blood cells, even though larger expansions are generally correlated with more severe disease symptoms and earlier onset.

The authors suggest that additional, as yet undefined, genetic factors, and/or environmental factors shared by families could be influencing the development of the MRI abnormalities. They also note, however, that MMD1-associated DNA expansions measured in blood cells don’t always match those measured in brain or other cells.

A study of the survival and functional status of 39 people with

spinal-bulbar muscular atrophy (SBMA, or Kennedy’s disease) conducted at the Mayo Clinic in Rochester, Minn., showed patients’ survival was only slightly altered compared to healthy subjects’ survival and that most patients had only mild neurologic impairment many years after diagnosis.

Eric Sorenson and colleagues, who published their findings in the May 20 issue of Neurology, reviewed the medical records of 39 people with a confirmed SBMA diagnosis who were seen at the Mayo Clinic between 1990 and 2005. They compared them to people unaffected by SBMA but otherwise similar.

Of the 39 SBMA-affected study participants, 33 (85 percent) were alive at the study’s start. In the six who had died, the average age of death was 76.

Eight could not be contacted, but the other 25 agreed to take part in the functional study, which used a standard rating scale to assess their abilities. The average score on this scale was 37, out of a possible 48.

The most common impairment was difficulty climbing stairs, although only five people said they were unable to do so.

Twenty reported some impairment in walking, but only two required a wheelchair.

Minor difficulty with swallowing was reported by 20 subjects, but all maintained normal oral intake and none used a feeding tube. No one required a speech augmentation device, and only one person needed respiratory support, using nonin-vasive positive pressure ventilation during sleep.

The results of the study suggest that “in addition to a good long-term survival, patients with SBMA continue to be independent in most of their activities of daily living,” the authors write. They say they don’t