What is Charcot-Marie-Tooth Disease?

Charcot Marie Tooth Disease
Charcot Marie Tooth Disease. Neuromuscular junction morphology and occupancy. Neuromuscular junctions (NMJs) from plantaris muscles were collected from one-month-old mice and visualized with antibodies labeling neurofilament (NF) and synaptic vesicle protein 2 (SV2) (green), and α-bungarotoxin, which binds acetylcholine receptors (AChRs) (red). NMJs from (A) wild type, (B) WT; TgA, and (C) WT; TgD mice were fully occupied by presynaptic terminals that completely overlap signals from postsynaptic markers with a complex, pretzel-like morphology. D) Nmf249/+, (E) Nmf249/+; TgA, and (F) Nmf249/+; TgD mice have NMJs with regions of post-synaptic staining that are not innervated (arrowheads) and some post-synaptic NMJs have no associated nerve (arrows). (G) The occupancy of NMJs was quantified by scoring as fully innervated, partially denervated, or fully denervated, based on the overlap between pre- and post-synaptic staining. 96.7±2.1% of wild-type NMJs were fully innervated, while only 19.6±9.3% were fully innervated in Nmf249/+ mice (p<0.001). No significant change was seen between mutant mice and mutant mice with transgenes A and D, where 14.5±5.9% and 25.5±12.8% of NMJs were fully innervated, respectively. All scale bars are 20 µm. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels: Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW - PLoS genetics (2011). Not altered. CC.

Charcot-Marie-tooth disease is an inherited neurological disorder that affects both sensory and motor nerves.

What is the Pathology of Charcot-Marie-Tooth Disease?

The pathology of Charcot-Marie-tooth disease is the study of the motor and the sensory disease of the nerves. 

-Etiology: The cause of charcot-marie-tooth disease is gene mutation.

-Genes involved: GARS, PMP22, ATP1A1, PRPS1 genes.

-Pathogenesis: The sequence of events that lead to charcot-marie-tooth disease is increased duplication of the genes involved in the myelin sheath leading to the abnormality of the affected areas.

-Morphology: NA.

-Histology: NA. 

How does Charcot-Marie-Tooth Disease Present? 

Patients with charcot-marie-tooth disease typically are women present at the age range of childhood to 20 years. The symptoms, features, and clinical findings associated with charcot-marie-tooth include tripping and falling a lot, stork leg appearance due to muscle loss, bony abnormalities- high arch and hammertoes, sharp pain of the limbs, and emaciation. 

How is Charcot-Marie-Tooth Disease Diagnosed? 

Charcot-marie-tooth disease is diagnosed by physical examination, history taking, neurology, and electrocardiography.

How is Charcot-Marie-Tooth Disease Treated? 

Charcot-marie-tooth disease is treated by correction of the deformities, tendon lengthening, occupation therapy, and also pain medication.

What is the Prognosis of Charcot-Marie-Tooth Disease?

The prognosis of charcot-marie-tooth disease is good since one with the disease can live a normal life with supportive therapy.

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Last updated on May 23, 2022