Aging Begins at 30

Finding Name of Mysterious Disease is Gratifying
Dropped Head Syndrome

Eureka! It was like discovering buried treasure! The editorial in the September 5^th, 1998, issue of the Lancet was headed, "Dropped Head Syndrome." It had to be the disease I had been seeking for many years. In the mid 1960s my Aunt Alice, a retired bilingual executive secretary, had almost suddenly become unable to lift her chin off her chest. Her neck was painless. She looked stupid but wasn’t. In the early 1980s my sister Anne, a long-retired kindergarten teacher, developed the same problem. They died later with their problem unnamed and undiagnosed.

I questioned my colleagues in neurology about it in the late 1980s. "Perhaps it’s genetic and I’ll get it too?" "We’ve never heard of it." they told me so with no name I couldn’t do a literature search. Now from the editorial I had a name and immediately found four good references, including the original description from Boston in 1992. The first four patients were aged 71, 81, 68, and 63. Alice and Anne were 75 and 65 when I first noted their problem. The four patients’ stories were identical. Generally only the stretch muscles of the neck are weak. One patient had a family history. The disease seems to develop over one to four months and then remain static. Followed for years they developed no other problems, so patients can be reassured. The authors explained that it wasn’t myasthenia gravis, or Lou Gehrig’s disease, or polymyositis (muscle inflammation), and not carnitine deficiency (an amino acid needed for muscle contraction). Neurologists from other countries reported other cases. One author thought it should be lumped in with "bent spine disease" and grouped as axial myopathy (central spinal muscle disease). Needle electrical muscle recordings (electromyograms) in dropped head syndrome showed fibrillation or signs of muscle wasting, as did biopsies. There was no inflammation. About 1.5% of 800 neurology clinic patients in Dallas had neck raising problems and four (0.5%) had dropped head syndrome. The bones of the spine were not pressing on and damaging nerves. CT scans show replacement of muscles by fat. Two percent of patients with myasthenia gravis or Lou Gehrig's disease can arrive at clinic with neck weakness but the other problems of these diseases soon begin.

Bent spine disease is a different disease and is characterized by a pronounced forward bending of the trunk. A few cases are secondary to Marie Strumpel’s disease or poker spine (rheumatoid spinal fusion), Parkinsons disease, Lou Gehrig’s disease, carnitine deficiency, or hysteria and have been given the picturesque name camptocormia (Greek for bent tree trunk). Upon lying down the deformity disappears. Some however may be cousins of dropped head disease.

Why is the onset late in life? Why does the disease choose the neck, the spine, or both? So far the diagnosis is a clinical (bedside) one. There are no diagnostic tests. No causes are known. But a beginning has been made by giving it a name. I could have made a name for myself too in the 1980s. If I had described it, it could have been Smith's disease. Dr. Alois Alzheimer did much better by describing only one case!

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See related Patient Topics Bones, Joints and Muscles or Spinal Diseases.

See related Provider Topics Bones, Joints and Muscles or Spinal Diseases.

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