Type Of Progressive Muscular Atrophy Research Articles

The Cavovarus Foot in Hereditary Motor and Sensory Neuropathies.

The cavovarus foot is a complex deformity involving a spectrum of changes to the hindfoot, midfoot, forefoot, and ankle. While cavovarus deformity can occur secondary to many congenital, neurological, or posttraumatic causes, the prototypical form is that of Charcot-Marie-Tooth (CMT) disease, the most common inherited neuropathy. The first known cases of cavovarus foot deformity were reported by Aran in the Archives Generales de Medicine in 18501. Professor Jean Martin Charcot and his student Pierre Marie coined the term “peroneal muscular atrophy” in 1886, with clinical descriptions of distal muscle weakness beginning in the legs and hands2. Howard Henry Tooth, in his Cambridge MD dissertation in the same year, wrote on “the peroneal type of progressive muscular atrophy” and provided illustrations of hindfoot varus and wasting of the peronei and foot extensors (Fig. 1)3. Charcot-Marie-Tooth disease has now become synonymous with the hereditary motor and sensory neuropathies (HMSNs), of which nearly fifty genetic subtypes have been described4. These neuropathies constitute a genetically and phenotypically heterogeneous group of peripheral nerve disorders that are …

Charcot Marie Tooth disease (CMT): historical perspectives and evolution.

Prior to Charcot and Marie's and Tooth's reports, patients with peroneal muscular atrophy had been described by Virchow, Eulenburg, Friedreich, Osler, and others. In February 1886, Charcot and Marie published their original description of five patients who had what they called Progressive Muscular Atrophy. They surmised that the lesion could be in the spinal cord. Three months later, Tooth presented his M.D. degree thesis entitled "Peroneal Type of Progressive Muscular Atrophy", to the University of Cambridge, UK. Tooth localized the pathology to the peripheral nerves. Dyck and Lambert (Arch Neurol 18:619-625, 1968) classified several CMT kinships based on differences in modes of inheritance, natural history, biochemical features, nerve conduction velocity, and pathologic characteristics. This article will focus on historical landmarks and major discoveries pertinent to the disease since its original description through the second half of the twentieth century.

Molecular genetics of Charcot-Marie-Tooth neuropathy.

The disease described by Charcot and Marie involves a slowly progressive distal muscular atrophy with initial involvement of the feet and legs, followed by variable progressive weakness of the hands (Charcot and Marie, 1886). Independently, Tooth had reported on a peroneal type of progressive muscular atrophy with essentially the same clinical findings (Tooth, 1886). While the inherited nature of the disease was noted in both studies, Tooth had correctly postulated that the disorder is due to an underlying neuropathy, instead of a myelopathy as Charcot and Marie had proposed.

Lipid abnormalities in hereditary neuropathy: Part 2. Serum phospholipids

The mean percentage of linoleate to total fatty acids in phosphatidylcholine and lysophosphatidylcholine fractions of serum phospholipids from neuropathic patients with HMN (hereditary motor neuropathy, also called distal type of progressive muscular atrophy), HMSN-I and HMSN-II (two types of peroneal muscular atrophy), and FA (Friedreich's ataxia) was reduced by approximately 10–20% ( P < 0.001). On the other hand, the mean percentage of nervonic acid in sphingomyelin was elevated by 9–20%. No significant difference was observed in phosphatidylethanolamine between neuropathic patients and control subjects. The mean concentration of phosphatidylcholine and sphingomyelin was also significantly reduced in neuropathic patients (except in HMN and HMSN-III). A significant correlation between endogenous 2-linoleoyl-sn-glycerol-3-phosphocholine and cholesteryl linoleate synthesis in vitro suggests that the decreased activity of phosphatidylcholine acyltransferase (EC 2.3.1.43; LCAT) in neuropathic patients is influenced by the fatty acid composition of their lipoprotein substrate. Furthermore, the reduction of phosphatidylcholine and of cholesteryl linoleate synthesis in vitro in neuropathic patients was affected by age and sex. It is unlikely that the reduced linoleate level in serum phosphatidylcholine for most, possibly all, of the inherited neuropathies studied here reflects a specific biochemical disorder. Possibly it reflects a more generalized biochemical alteration common to inherited neuropathy. One possibility is that biosynthesis of new membrane in axonal regeneration, segmental remyelination and Schwann cell hyperplasia may reduce the serum linoleate pool.

Histopathology of Muscles in the Spinal Type of Progressive Muscular Atrophy

Journal Article Histopathology of Muscles in the Spinal Type of Progressive Muscular Atrophy Get access George B. Hassin, M.D., George B. Hassin, M.D. 1Chicago, Ill. Search for other works by this author on: Oxford Academic PubMed Google Scholar Wm. Dublin, M.D. Wm. Dublin, M.D. 2Los Angeles, Cal. Search for other works by this author on: Oxford Academic PubMed Google Scholar Journal of Neuropathology & Experimental Neurology, Volume 4, Issue 3, July 1945, Pages 240–249, https://doi.org/10.1097/00005072-194504030-00003 Published: 01 July 1945

Spinal caries simulating peroneal type of progressive muscular atrophy

Spinal caries simulating peroneal type of progressive muscular atrophy

THE PATHOLOGY OF AMYOTONIA CONGENITA

Oppenheim, 1 who first described amyotonia congenita as a new clinical entity, considered the condition a primary disease either of the muscle or of the lower motor neuron. The first postmortem examination was made by Spiller, 2 in 1905, who found the central nervous system entirely normal. To date, the world's literature contains only twenty-two pathologic reports of cases diagnosed clinically as amyotonia congenita. A few authors have corroborated Spiller's first report, whereas others have reported changes within the spinal cord which have been fairly uniform. Since amyotonia congenita has been linked by some to the myopathies and by others to the infantile type of progressive muscular atrophy, a study of the disease has some importance in a consideration of the degenerative atrophies as a group. REPORT OF CASE Clinical History. —A girl, aged 6 months, was admitted to the Sarah Morris Hospital on Jan. 15, 1925, with generalized muscular

PERONEAL FORM OF PROGRESSIVE MUSCULAR ATROPHY

A controversy has arisen recently between Roussy and Levy on the one hand and Symonds and Shaw on the other, over the classification of two groups of cases which these observers have studied. Roussy and Levy 1 reported the occurrence of a disease in seven members of one family, which was characterized by an acquired bilateral pes cavus, together with total abolition of the tendon reflexes and in some of the cases atrophic weakness of the hands. This, they claim, is a clinical picture hitherto undescribed, and should be regarded as distinct on the one hand from Friedreich's disease, and on the other hand from the socalled peroneal type of progressive muscular atrophy originally described by Charcot and Marie and in the same year by Tooth. Symonds and Shaw, 2 from a comparison of the details recorded in Roussy and Levy's cases with those found in ten members of a

Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth)

Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth)

Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth)

Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth)