Progressive Muscular Dystrophy as an Endocrine Disease

نویسنده

  • WALTER TIMME
چکیده

In the present paper, the author desires to report a somewhat atyp­ ical form of progressive muscular dystrophy, rather resembling Erb's infantile type, of extremely benign and �low progress. In the cases examined it has occurred as a hereditary affection now in the fourth generation. The number of individuals disabled thus far has been fourteen. Of the seven living members with the disease, all but two have been examined by Roentgen ray, and of these five, four show distinct changes in the pineal gland, producing shadows in the roent­ genogram. The evidence presented by the cases reported in the pres­ ent paper, togethet· with that of previous communications in this field, creates a strong probability of the existence of a close relationship between progressive muscular dystrophy and disease of the pineal gland. In order to understand the evolution that has now placed this dis­ ease among the endocrinopathies, a rapid survey of the development of the syndrome, together with the most important contributions thereto in the last few decades, is almost indispensable and is herewith included. The cases studied have been placed at my disposal by Dr. Pearce Bailey, of the Neurological Institute, and for his valuable sug­ gestions and actual assistance, I desire to express my appreciation and my thanks. Historical.1-The first observations on muscular atrophies are found in Boerhaeve's Aphorisms (1709), in which Van Swieten mentions the involvement of the deltoid and that of the intrinsic hand muscles. Later, Charles Bell described syndromes including progressive muscu­ lar atrophy. But it was reserved for Aran and Duchenne in 1850 to give the first good description of progressive muscular atrophy. Fol­ lowing them, the French physicians called this type of disease "atrophic musculaire progressive type Duchenne-Aran." Shortly thereafter, Cru­ veilhier, on the basis of a necropsy, stated that the cause of the disease lay in abnormality of the spinal gray; and ever since then the discussion

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

P164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...

متن کامل

Headache: A Presentation of Pompe Disease; A Case Report

Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme. As a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. In Pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...

متن کامل

Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report

Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...

متن کامل

The Diagnostic Value of Utrophin in Mild Dystrophinopathy (Becker Muscular Dystrophy)

  Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. The diagnostic panel composed of Serum Ceratin Kinase (SCK) measurement, Electromyography (EMG), and as a major...

متن کامل

The Synthesis, Storage, and Excretion of Creatine, Creatinine, and Glycocyamine in Progressive Muscular Dystrophy and the Effects of Certain Hormones on These Processes

The diminished excretion of creatinine in progressive muscular dystrophy is a more striking and specific phenomenon than the excess excretion of creatine, marked though this is. While creatinuria is invariably encountered in all cases of long-standing dystrophy, the extent to which the excretion of creatinine is decreased provides a more reliable indication of the severity of the disease since ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2014