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8 views

charcot f

Uploaded by

Maliha Aije
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Charcot-Marie-Tooth

Disease
Presented by Maliha Arije

1
Introduction

2
Understanding Charcot-Marie-
Tooth Disease
• Charcot-Marie-Tooth (CMT) is a group of hereditary neurological
disorders.
• Also known as
• affect the peripheral nerves, leading to muscle weakness, sensation
loss, and other debilitating symptoms
• It is named after the three physicians who first described it in 1886:
• Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

3
Conti…
• large heterogeneous groups of sensory, neurological genetic disorders
• characterized by sensory neuropathies, muscular atrophies, abnormal
sensory conduction velocities, and ataxia
• Tooth (CMT) disease is the most common hereditary neuromuscular
disorder.
• with a prevalence of approximately 1 in 2,500 people
• It typically appears in the first two decades of life.

4
Symptoms and progression of CMT
1 Early Symptoms
CMT often starts with subtle symptoms like muscle weakness and atrophy
in the feet and lower legs, leading to difficulties with balance and walking.

2 Progressive Weakening
Over time, the muscle weakness can spread to the hands and upper limbs,
making daily tasks like buttoning shirts or opening jars increasingly
challenging.

3 Sensory Impairment
Many CMT patients also experience reduced sensation in the extremities,
leading to a higher risk of foot sores and injuries that go unnoticed.
Sign and symptoms

6
Causes
• (CMT) is caused by mutations in genes that cause the peripheral nerves to become
damaged.

Myelin Sheath Defects 1

In some CMT types, gene


mutations lead to the 2 Axonal Damage
degeneration of the
protective myelin sheath Other CMT types are caused by gene
around nerve cells. mutations that directly affect the nerve
cell axons, impairing electrical signal
transmission.
Genetic basis
• Many of the genes are involved
• PMP22 Gene Mutations: In the subtype CMT1A, caused by a
duplication or point mutation in the PMP22 gene on chromosome 17,
accounting for approximately 70% to 80% of cases.
• MFN2 Gene Mutations: Mutations in the MFN2 gene are the most
common cause of CMT2, accounting for about 20% of cases.
• MPZ Gene Mutations: Found in the CMT1 group, MPZ gene mutations
are the next most common after PMP22 mutations.
• Cx32 Gene Mutations: Identified in the CMT2 group, mutations in the
Cx32 gene are another common genetic factor in CMT disease
8
Inheritance pattern
• Autosomal dominant: most common
• CMT1
• Autosomal recessive: CMT4
• X linked : is caused by mutations in the connexin-32 gene, located on
the X chromosome.

9
Conti….

(Nave et al., 2007) 10


Types : CMT1: Myelin Sheath Defec
1 Genetic Basis
CMT1 is caused by gene mutations that lead to degeneration of the myelin
sheath around nerve cells.

2 Symptom Onset
Patients with CMT1 typically notice the first symptoms, such as sensory loss
and muscle weakness, in adolescence.

3 Subtypes
CMT1 includes several subtypes, including CMT1A, CMT1B, CMT1C,
CMT1D, and CMT1E, each with distinct genetic causes.
CMT2: Axonal Defects

Genetic Basis Symptom Severity Subtypes

CMT2 is caused by CMT2 is typically CMT2 includes


gene mutations that associated with less subtypes such as
lead to defects in the severe symptoms CMT2A, CMT2B,
axon of the nerve compared to CMT1. CMT2D, CMT2E,
cells. CMT2H, and
CMT2I, each with
distinct genetic
causes.
CMT3: Severe Myelin Defects

Genetic Basis
Symptom Onset
CMT3, also known as
Dejerine-Sottas Disease, CMT3 is associated with
is caused by specific point severe symptoms that
mutations in the P0 or typically present in
PMP-22 genes. infancy or early
childhood.

Disability
Patients with CMT3 are more likely to eventually lose the ability to walk independently.
CMT4: Severe Myelin Defec
Genetic Basis
CMT4 is caused by gene mutations that lead to
changes in the myelin sheath, similar to CMT3.

Symptom Onset
CMT4 is also associated with severe symptoms that
present in early childhood.

Subtypes
CMT4 includes several subtypes, each with a distinct
genetic cause, such as CMT4A, CMT4B, and CMT4C.
CMTX: X-Linked CMT

Gender Prevalence Genetic Cause Schwann Cell


CMTX is more CMTX is caused by a Involvement
common in men point mutation in The connexin-32
than women. the connexin-32 gene is expressed in
gene on the X Schwann cells,
chromosome. which form the
myelin sheath.
Diagnosis

Clinical Nerve Nerve biopsy Genetic testing


examination conduction
studies

16
Treatment options

Othropedic Physical
Medication
devices therapy

Occupational Hearing and


Surgery
therapy breathing aids

17
Conclusion
Charcot-Marie-Tooth is not a fatal disease, and most people live to a
normal age and remain active and most patients live a normal lifespan
with proper management. It does not affect brain

18
References
•Alcantara, M., Portugal, D., & Oliveira, L. (2014). P234: Autosomal dominant intermediate Charcot-
Marie-Tooth disease and nephropathy: clinical presentation and long-term follow-up. Clinical
Neurophysiology, 125, S110-S111. https://doi.org/10.1016/s1388-2457(14)50362-8
•Banchs, I., Casasnovas, C., Albertí, A., De Jorge, L., Povedano, M., Montero, J., Martínez-Matos, J.
A., & Volpini, V. (2009). Diagnosis of Charcot-Marie-Tooth disease. Journal of Biomedicine and
Biotechnology, 2009, 1-10. https://doi.org/10.1155/2009/985415
•Charcot-Marie-Tooth disease - Causes. (2019, February 28). nhs.uk.
https://www.nhs.uk/conditions/charcot-marie-tooth-disease/causes/#:~:text=Charcot-Marie-Tooth
%20disease%20(,(
the%20central%2
•Charcot-Marie-Tooth disease types. (2022, November 8). News-Medical. https://www.news-
medical.net/health/Charcot-Marie-Tooth-Disease-Types.aspx

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