Charcot-Marie-Tooth Disease by Tiara Flett

Charcot-Marie-Tooth Disease by Tiara Flett https://padlet.com/TiaraFlett/qlzg1nz56ccd190g By Kim and Tiara en-us 2023-05-03 22:52:28 UTC 2023-05-15 05:48:46 UTC hello@padlet.com https://media1.giphy.com/media/NCJxEh8p4KQZzI6UIk/giphy.gif Did you know? https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2577377125

Most common inherited neuromuscular disease

Affects 1 in 2500 or 2.6 million people across the world

]]> 2023-05-03 22:58:36 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2577377125 Define the Condition kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587836146

Hereditary Disease

Motor and Sensory polyneuropathy of peripheral nerves (mostly distal limbs)

Late adolescence and Early adulthood

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Mutations in the genes of the peripheral nerve axon or myelin sheath

Weak or slow impulses

]]> 2023-05-11 23:10:11 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587836349 Diagnosis kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587838628

Detailed family and medical history

Look for evidence of

Muscle weakness in arms, legs, hands and feet
Decreased muscle mass
Reduced tendon reflexes
Sensory loss
Foot and orthopaedic problems

Blood test to look at genetic defects

Nerve conduction studies

Electromyography

Nerve biopsy

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Fatigue

Foot deformities

Pain

Tremors

]]> 2023-05-11 23:14:08 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587838812 Risk Factors kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587838966

Hereditary -> anyone in your immediate family due to gene mutation

Age: late adolescence and early adulthood

]]> 2023-05-11 23:14:24 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587838966 Medical Management kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587839122 Prognosis:

Does not affect life expectancy
No cure

Treatment:

Physiotherapy
Occupational Therapy
Surgery:
- Soft tissue surgeries
- Osteotomies (removal of bone)
- Joint fusion
Pain medication (NSAIDs)

]]> 2023-05-11 23:14:43 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587839122 Implications for PT/OT/PTA/OTA kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2587839462 OT/OTA

Assistive Devices
Thumb Splints
Braces (step smart)
Hightop Shoes
Wheelchairs

PT/PTA

Posture and Balance
Hydrotherapy (swimming)
Aerobic Exercises (low impact)
Strengthening
Stretching
PNF
Gait aids

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Affects the axon and myelin sheath of sensory and motor neurons

Hereditary

No cure but early treatment (physio) helps manage the disease

Has a average life expectancy

]]> 2023-05-13 19:57:14 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589713086 References kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589716653

Charcot-Marie-Tooth disease. Charcot-Marie-Tooth Disease | Johns Hopkins Medicine. (2021, August 8). https://www.hopkinsmedicine.org/health/conditions-and-diseases/charcotmarietooth-disease

Charcot-Marie-Tooth disease. Physiopedia. (n.d.). https://www.physio-pedia.com/Charcot-Marie-Tooth_disease

Corrado, B., Ciardi, G., & Bargigli, C. (2016). Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature. Medicine, 95(17), e3278. https://doi.org/10.1097/MD.0000000000003278 - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998680/

U.S. Department of Health and Human Services. (n.d.). Charcot-Marie-Tooth disease. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-information/disorders/charcot-marie-tooth-disease#:~:text=CMT%20affects%20both%20sensory%20and,legs%2C%20hands%2C%20or%20feet

U.S. National Library of Medicine. (n.d.). Charcot-Marie-Tooth disease: Medlineplus Genetics. MedlinePlus. https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/#inheritance

]]> 2023-05-13 20:06:52 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589716653 Patterns kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589728709

Autosomal dominant - one copy of mutated gene received from either parent

Autosomal recessive - two copies of the mutated gene received - one from each parent

X-linked - mutation on the X chromosome

]]> 2023-05-13 20:36:09 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589728709 Types of CMT kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589729628

CMT1 - demyelinating - most common

Mutations on X chromosome

CMT2 - axonal CMT

Axonal degeneration

CMT3 - dominant autosomal - very rare

Hypomyelination and axonal hypertrophy

CMT4 - autosomal recessive inheritance - rare

Both axonal and demyelinating

CMT X1 - second most common

Affects the Schwann cells
Mutation on the X chromosome
Affects people with XY chromosomes more than people with XX chromosomes

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Atrophy of the muscles

Difficulty walking/gait abnormalities

Loss of deep tendon reflexes

Sensory loss

]]> 2023-05-13 21:54:58 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589752904 What is Charcot Marie Tooth Disease? kimberlynivymascaro https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589766022 2023-05-13 22:51:47 UTC https://padlet.com/TiaraFlett/qlzg1nz56ccd190g/wish/2589766022