Charcot-Marie-Tooth Disease

Abstract

Charcot-Marie-Tooth disease (CMTD), or peroneal muscular atrophy (PMA), is an uncommon inherited affection of peripheral nerve and probably root, spinal cord, and muscle of young people. Many aspects of the pathology, etiology, and genetics are unresolved and demand a review of previous findings as well as new approaches in future investigations. In this light, a family containing five male siblings with this illness has been studied. From a review of the literature, it appears this is the first time that : (1) a 45-year follow-up study of this progressive disorder has been attempted; (2) chromosomal analysis has been performed in this heredofamilial disease; and (3) adequate documentation of the associated mental deficiency has been obtained, whereas previous reports have only noted impressions of such. In addition, the development of concepts and controversies regarding certain genetic, pathological, and clinical aspects has been chronologically summarized. Report of CasesPresent Illness and Family History.\p=m-\A44-year-$ old school custodian (the patient in this report) was noted to have early weakness and wasting of muscles predominantly in hands and feet some time between infancy and the age of two years. His four brothers experienced similar symptoms at similar times of onset. Details of incipient symptoms were poorly recalled, but all five siblings reported considerable progression during childhood with a rather static course in adulthood.Forty-five years ago, at the age of three years, the oldest brother (brother 1) was found to have a foot deformity. His photograph at 14 years shows foot drop, equinovarus, and pes cavus best seen in the left foot (Fig 1). Contracture of the tendo calcaneus was described, and he weighed 68 lb (30.8kg) at that time. He was doing poor work in the fifth grade of a special school. At age 19, a Stanford Achievement test gave him an educational age of ten years nine months, and he had not yet passed the school's sixth grade. He died at 33 from pneumonia. Forty years ago, at age six months, the youngest sibling (brother 2) was examined and given an estimated IQ of 100 which must be considered un¬ reliable at that age At 13 months, he walked and talked, but speech was slurred from the beginning. When admitted to a special school at age 121/^, he had a mental age score of five years two months with a resultant IQ of 41. Repeated annual tests in five succeeding years gave IQ's consistently between 38 and 41. On admission to the school, all five broth¬ ers were examined and thought to be feebleminded, but the records lack documentation of the evidence for this impression. Brother 2 was described then as 26 lb (11.8 kg) under expected weight and 3.3 in (8.5 cm) below average height. He appeared emaci¬ ated with poor posture, defective speech, and cyanotic distal upper extremities. A detailed neurological examination was not done. Bowel and bladder control were poor. By age 14, his vocabulary test results were below grade one level. Since then, he has been a behavior problem. No hosp...

Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

“…The Roussy-LCvy Syndrome (Roussy & LCvy 1926) is regarded by some authors (Sy- monds & Shaw 1926, Rozanski 1951 as an abortive form of CMT. Some authors (Schwartz 1963, Biirgi et al 1964) have challenged the view that familial hypertrophic polyneuritis (Dejerine & Sottas 1893) is a separate disorder, stressing its similarity with CMT. Dawidenkov (1927) held that 12 different types of CMT exist, including the Roussy-LCvy and Dejerine-Sottas syndromes.…”

Family with Charcot-Marie-Tooth Disease Showing Unusual Biochemical-Clinical and Genetic Features

“…The disease seems to progress more rapidly in young people. Several authors suggest that there is little progress in the disease during middle age [Schwartz, 1963]. A similar picture is found in patients with Duchenne muscular dystrophy, where a rapid drop in creatine phosphokinase was observed after the age of 10 [Munsat et al, 1973].…”