Patient, in his mid to late twenties, presents with peroneal wasting, hammertoes, cavoid foot type, retracted toes, appeared wasting at the extensors, “bottle-neck” shaped legs, osteoarthritic ankles, sunken in toes on both feet.
The patient was diagnosed with Charcot Marie Tooth at a young age, 3yrs of age, and has had multiple surgeries across his teenage years up until his adulthood as a result of his genetic condition.
What is CMT?
Charcot Marie Tooth is a common inherited neuromuscular disorder (Pareyson & Marchise, 2009). According to Pareyson & Marchise, the current modality of treatment is a mix of conservative and invasive. Conservative treatment is rehabilitation therapy including custom insoles and special footwear and invasive treatment involves surgeries such as triple arthrodesis (Pareyson & Marchise, 2009).
CMT is named after three scientists: Jean-Marie Charcot, Pierre Marie and Howard Henry Tooth in 1886 (Chicago, 2010). CMT is the most common neuromuscular inherited disease with ratios of 40:100,000 in Europe alone (Pareyson & Marchise, 2009).
Current literature states that CMT presents clinically in the following ways: Pes Cavus, or Pes Planus (which later progresses to cavus deformity), hammertoes, difficulty in running, twisting of ankle, difficulty in walking, foot drop, steppage gait, wasting, weakness, and sensory loss of distal segments of lower and then upper limbs, difficulty in-hand manipulation and reduced or absent deep tendon reflexes (Pareyson & Marchise, 2009). CMT has other presentations to look out for that aren’t related to podiatry but can be key in recognizing the condition such as hand tremors, muscle cramps, cold feet, foot callosities, and acrocyanosis, the onset of the condition can be quite early on that it can also cause hypotonia (floppy baby syndrome) delayed motor development and toe-walking can occur later in life (Pareyson & Marchise, 2009).
Family history is a key recognizing factor when treating someone with CMT since it is an inherited genetic neuromuscular condition. According to Pareyson & Marchise, there is no effective treatment for CMT, however, there are supportive treatment options such as arthrodesis, which is a fusion of the bones in aims to reduce pain and increase stability (Ananto, et al., 2021). There are two accepted forms of neuroarthropathy/osteoarthropic Charcot Joint: atrophic and hypertrophic (Singh, et al., 2020).
The hypertrophic form is the most common and is widely referred to as the ‘Charcot Joint’ (Singh, et al., 2020). Clinically CMT is characterized by muscle wasting, distal sensory loss, loss of reflexes, clawing of toes and pes cavus foot type (Singh, et al., 2020), (Pareyson & Marchise, 2009). A measure of evaluation of patients with CMT is called the Charcot Marie Tooth Neuropathy Score with components divided into the following categories: three items in symptoms, four items in signs and two items in neurophysiology (Murphey, et al., 2011).
(Murphey, et al., 2011)
The system for scoring was assessed by Murphey et al and they determined that the revised version of CMTNS-2 was more reliable than the previous version of the examination scale in patients with CMT and will be used longitudinally in a large natural history study.
Treatments for CMT: Treatments for CMT most commonly include orthotics on a podiatric level, and in terms of conservative treatment and for more invasive measures surgeries include: ankle fusion, dorsiflexion osteotomy of the hallux, tibialis posterior tendon transfer, calcaneal osteotomy, Achilles tendon lengthening (Singh, et al., 2020).
References
Ananto, P. S. et al., 2021. Double posterior lateral plating arthrodesis for Charcot ankle: a case series. Annals of Medicine and Surgery.
Chicago, T. U. o., 2010. Centre for Peripheral Neuropathy. [Online] Available at: https://peripheralneuropathycenter.uchicago.edu/learnaboutpn/typesofpn/hereditary/charcotmarietooth.shtml#:~:text=Charcot-Marie-Tooth%20disease%20%28CMT%29%20is%20a%20broad%20term%20used,and%20Howard%20Henry%20Tooth%2C%20discovered%20CMT%20in%201886. [Accessed 29 March 2021].
Murphey, S. M. et al., 2011. Reliability of the CMT neuropathy score (second version) in Charcot Marie Tooth Disease. Journal of the peripheral nervous system, Issue 16, pp. 191-198.
Pareyson, D. & Marchise, C., 2009. Diagnosis, natural history, and management of Charcot - Marie - Tooth Disease. The Lancet Neurology, 8(7), pp. 654-667.
Singh, D., Gray, J., Laura, M. & Reilly, M. M., 2020. Charcot Neuroarthropathy in patients with Charcot Marie Tooth Disease. Foot and Ankle Surgery.
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