Charcot-Marie-Tooth (CMT) disease encompasses a heterogeneous group of inherited, severe, debilitating, progressive and chronic peripheral neuropathies. Charcot-Marie-Tooth disease type 1A (CMT1A), the most common type of CMT, is an orphan disease with a prevalence of 1/5000 people affecting at least 150,000 people in Europe and the U.S. and about 1,500,000 people worldwide.
The genetic mutation responsible for CMT1A is a duplication of the PMP22 gene coding for a peripheral myelin protein. The duplication of this gene results in overexpression of the PMP22 protein and failure of Schwann cells to produce normal myelin (neuronal sheath). The lack of a normal myelin structure and function leads to abnormal peripheral nerve conduction and axonal loss. As a result of peripheral nerve degradation, patients suffer from progressive muscle atrophy in both the legs and arms causing problems with walking, running and balance as well as abnormal hand functioning. They might also suffer from mild to moderate sensory disorders.
First symptoms usually appear during adolescence and will progressively evolve throughout life. Patients with the most severe form of CMT1A end up in wheelchairs, representing at least 5% of cases.
To date, no curative or symptomatic medications have been approved and treatment consists of supportive care such as orthotics, leg braces, physical and occupational therapy or surgery.
Sarah, 38-year-old, diagnosed with CMT1A when she was 2-year-old
Kendall, 61-year-old, diagnosed with CMT1A when he was 16-year-old
Amy, 45-year-old, diagnosed with CMT1A when she was 36-year-old
Yvette, 67-year-old, diagnosed with CMT1A when she was 57-year-old
Arched foot/feet and hammer toes
Weakness of the hips, legs, or feet
Loss of lower leg muscle, which leads to skinny calves
Difficulty lifting the foot at the ankle (foot drop)
Numbness in the feet or hands
Leg and hand cramps
Loss of balance, frequent tripping and falling
Fatigue and pain
Speech and swallowing difficulties
Breathing difficulties, especially when lying flat
Vocal cord paralysis
55-year-old, diagnosed with CMT1A when she was 31-year-old
CEO of the Hereditary Neuropathy Foundation
Following the “Faces of CMT” photography competition run by HNF, CMTA and ECMTF and supported by Pharnext to mark Rare Disease Day 2021, find the booklet regrouping all photos submitted. This photobook also contains testimonies highlighting the wonderful individuals and their family and friends around the world living with CMT.
LINK to the photobook
Following the “Living with CMT" art competition run by HNF, CMTA and ECMTF and supported by Pharnext to mark Rare Disease Day 2022, find the booklet regrouping all participants art and stories. Patients shared the challenges raised by the disease and their strategies to overcome them through a range of fantastic artworks.
LINK to the booklet
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