Progressive peroneal muscular atrophy (Charcot-Marie-Tooth disease) associated with β-thalassemia trait and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. A clinical and nerve biopsy case

1981 ◽  
Vol 2 (3) ◽  
pp. 269-274
Author(s):  
D. Inzitari ◽  
N. Rizzuto ◽  
P. Antuono ◽  
D. Sità
Keyword(s):  
Muscular Atrophy ◽  
Nerve Biopsy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Peroneal Muscular Atrophy ◽  
Thalassemia Trait ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Tooth Disease

Homozygous Expression of a Dominant Gene Causing Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease)

1974 ◽  
Vol 23 (S1) ◽  
pp. 217-220 ◽  
Author(s):  
H. Warner Kloepfer ◽  
James M. Killian
Keyword(s):  
Clinical Features ◽  
Nerve Conduction ◽  
Peripheral Nerves ◽  
Muscular Atrophy ◽  
Dominant Gene ◽  
Conduction Time ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Peroneal Muscular Atrophy ◽  
Tooth Disease

This study involves the presentation of a kindred from Southwestern Louisiana showing 66 individuals who were heterozygous for a rare dominant gene for a type of Charcot-Marie-Tooth disease with hypertrophy of peripheral nerves. Two marriages between heterozygotes resulted in the occurrence of five homozygous offsprings. Clinical features of these previously undescribed homozygotes are compared to the clinical features of the classic type of heterozygote. The value of using nerve-conduction time to detect the asymptomatic heterozygote for Charcot-Marie-Tooth disease is discussed.

AXONAL SPHEROID AND SWELLING IN PERONEAL MUSCULAR ATROPHY (CHARCOT-MARIE-TOOTH DISEASE)

1978 ◽  
Vol 37 (5) ◽  
pp. 696
Author(s):  
A. R. Sulaiman ◽  
K. -c. Ho ◽  
R. R. Koenig ◽  
K. A. Siegesmund ◽  
J. U. Caxancis ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Charcot Marie Tooth ◽  
Axonal Spheroid ◽  
Charcot Marie Tooth Disease ◽  
Peroneal Muscular Atrophy ◽  
Tooth Disease

Variability in nerve biopsy findings in a kinship with dominantly inherited charcot-marie-tooth disease

1982 ◽  
Vol 5 (3) ◽  
pp. 185-196 ◽  
Author(s):  
Tiemen W. van Weerden ◽  
Hendrik Jan Houthoff ◽  
Onggie Sie ◽  
Jan M. Minderhoud
Keyword(s):  
Nerve Biopsy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marco Orsini ◽  
Acary Souza Bulle Oliveira ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant’ Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Rare Form ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type Iv ◽  
Tooth Disease

Report of a Patient with Multiple Mutations Leading to CharcotMarie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

2020 ◽  
Author(s):  
Atefeh MEHRABI ◽  
Dariush D. FARHUD ◽  
Karim NAYERNIA ◽  
Hossein SADIGHI ◽  
Marjan ZARIF-YEGANEH
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Lower Limbs ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Multiple Genes ◽  
First Case ◽  
Whole Exome ◽  
Different Types ◽  
Tooth Disease

The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs. There are several types of Charcot-Marie-Tooth and multiple genes are associated with this disease. Distal spinal muscular atrophy is an extremely rare disorder characterized by progressive pure lower motor neuron involvement. A 24 yr old woman using wheelchair referred to Farhud Genetic Clinic, Tehran, Iran in 2019, with progressive muscular atrophy, pain and Electromyography test suggesting Charcot-Marie-tooth. Both feet and hands were involved. Whole exome sequencing was performed on extracted DNA from her blood sample. We report the first case of a patient with different types of CharcotMarie-Tooth and distal spinal muscular atrophy simultaneously, which are as a result of mutations in multiple genes; this case is very uncommon.

scholarly journals Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

2003 ◽  
Vol 72 (5) ◽  
pp. 1293-1299 ◽  
Author(s):  
Anthony Antonellis ◽  
Rachel E. Ellsworth ◽  
Nyamkhishig Sambuughin ◽  
Imke Puls ◽  
Annette Abel ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Trna Synthetase ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type V ◽  
Tooth Disease
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