I'm not convinced that this disease is solely a Mattingly disease and have never met anyone suffering from this but thought I'd pass it along just in case it may be of some help.
MATTINGLY FAMILY FEATURED IN LIFE MAGAZINE
Maryland resident Andrew Mattingly Jackson Jr. spent years encouraging scientists to study the debilitating, long-term disorder that has affected his family for generations.
As a result, leading researchers made progress earlier this year in narrowing the location of the gene that underlies the disease, a juvenile-onset form of ALS which seems to be compatible with a normal life span. On Oct. 5, Life magazine published an issue highlighting the Mattingly family saga.
The condition, sometimes referred to as Mattingly's disease after the main branch of Jackson's family, has in the past been diagnosed as Charcot-Marie-Tooth disease (CMT), a peripheral neuropathy.
But Jackson, who has the disease, as did his father and as does his 48-year-old son, long suspected it had nothing to do with CMT.
"Every time I was with someone who had that disease (CMT), I could see a decided difference between me and them," Jackson says. For example, Jackson realized he wasn't experiencing the loss of sensation associated with CMT.
Jackson, who is 70 and a widower, has about 50 relatives affected by the disorder. Dozens more stand a good chance of developing it.
Jackson first noticed symptoms in 1947 when he was in his late teens, although he believes there may have been earlier indications. The disease progressed at a gradual rate.
He worked for Black and Decker for 40 years and retired only when he felt that the disease made it hard for him to fulfill practical functions of the job.
He now lives in a retirement community, and although he was able to drive a van up until about four years ago, he can no longer bathe or feed himself or perform other personal tasks without caregiver assistance. He can write by picking out one letter at a time via a computer device. His powers of speech are undiminished.
His history is fairly typical of the familial disorder. Average age of onset is 17. Difficulty walking is usually noticed first. By the 30s or 40s an affected individual is likely to require a wheelchair and, by the 50s, useful hand function is generally lost.
Despite the early appearance of symptoms and slow progression over a normal life span, leading researchers now believe the condition falls within the ALS family and refer to it as a juvenile-onset form of disease.
Four years ago, some 150 Mattinglys gathered for a reunion on Solomon's Island, Md. The event served as a kickoff for the genetic study of the disease. Blood samples were taken to provide DNA of affected and unaffected family members.
Jackson coordinated the blood-taking and made sure samples made their way to the laboratory of Philip Chance, the MDA grantee who headed up the study. Chance, a neurologist and genetics researcher, was at the University of Pennsylvania at the time but is now at the University of Washington in Seattle.
Jackson also contributed extensive genealogical information.
David Cornblath, an MDA grantee and a neurologist at Johns Hopkins University in Baltimore, also participated in the study. The researchers credit the family in general and Jackson in particular for their success in mapping the gene to a small region of chromosome 9, a finding reported earlier this year in the American Journal of Human Genetics and The ALS Newsletter (Vol. 3, No. 2).
The disorder hasn't been recorded outside the Mattingly family, although Jackson has hopes that increased publicity will lead to the discovery of unrelated affected individuals.
Jackson says no clinical trials have been undertaken to test potential ALS drugs on this particular form of ALS, but he'd like to see that happen.
Like CMT, juvenile-onset ALS is an autosomal dominant disorder. If one parent carries the affected gene, any child has a 50 percent chance of inheriting the disease.
Further study will focus on pinpointing the gene and then on understanding the cellular processes it regulates. It's possible that this increased understanding could benefit all people with ALS, inherited or otherwise.
All members of the Mattingly family are descended from British colonist Thomas Mattingly, who died in 1664. The branch of the Mattingly family that carries the disease settled in Maryland. Descendants of Mattinglys who spread westward, including baseball player Don Mattingly, appear to be much less frequently affected by the illness.