Muscular Dystrophy and Autism – New Research focus on Females

Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.

http://www.ncbi.nlm.nih.gov/pubmed/25125379

Abstract

Manifestations of Duchenne and Becker muscular dystrophy (DBMD) are present in up to 40% of heterozygous females, but there are few reports of females who exhibit skeletal muscle symptoms in childhood.

From the Muscular Dystrophy Surveillance Tracking and Research Network, a multi-site population-based surveillance network for dystrophinopathy, nine symptomatic female heterozygotes with onset of symptoms prior to age 9 years were identified. The median age at diagnosis was 8.3 years, and the median interval from first symptoms to diagnosis was 1.35 years.

Of the nine female heterozygotes, four had a positive family history, seven had intellectual disability and five had at least one mental health disorder.

Mental health concerns included attention deficit hyperactivity disorder (ADHD), autism spectrum features, bipolar disorder, and depression.

The frequency of intellectual and mental health problems in this group is higher than previously reported for affected males and for symptomatic females.

These findings may have implications for diagnosis of early manifesting heterozygotes and for their health supervision.

© 2014 Wiley Periodicals, Inc.

—————————————-

Further Readings of Interest

Muscular Dystrophy and Autism

https://asdresearchinitiative.wordpress.com/?s=muscular+dystrophy

Advertisements
This entry was posted in Autism, co-morbid, Inflammation, Muscular Dystrophy, Neurology. Bookmark the permalink.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s