Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis

The political economy of sexism in industrial health

In the last several years, increasing numbers of American women have lost their industrial jobs or have been refused jobs because they are of child-bearing age. Industrial physicians and management in manufacturing plants using various chemicals have decided that the risk their women workers take of having deformed children as a result of workplace hazards is such that the women must be 'protected'. An alternative 'choice' given to many of these women is proof of sterilization in order to maintain or attain jobs. In choosing to approach the growing problem of workplace contamination in this fashion, management and industrial physicians ignore the effects of chemical toxins on male employees' reproductive systems, and obscure the larger problem of hazards to all employees' total body systems. This paper explores the political economy of the interactions between Society, the Medical System and Women in a Capitalist State, in order to uncover the flow of forces operating in this conflict. Using an historical perspective, a feminist analysis is made of the social order, and a model is presented which demonstrates the articulations between the domains mentioned above, particularly the historical control of women by the medical system as an agent of the state.