Editing Charcot–Marie–Tooth disease (section)

== Signs and symptoms ==
The symptoms of CMT often appear in childhood and adolescence, but in some cases, they may not develop until adulthood. The severity and progression of symptoms can vary widely between individuals even among members of the same family.<ref name=":7" /> Some people do not experience symptoms until their early 30s or 40s. The most common early sign of CMT is difficulty walking, often due to weakness in the muscles of the lower legs and feet. This muscle weakness can lead to foot drop, where patients have trouble lifting the front part of the foot, causing them to trip or adopt a high-stepping gait. Over time, individuals may develop distinctive foot deformities, such as high arches (known as pes cavus) and curled toes (hammertoes), due to muscle imbalance.<ref name=":7" />

As the disease progresses, the weakness often spreads to the hands and forearms, making tasks that require fine motor skills—like buttoning a shirt or writing—more difficult. In addition to motor symptoms, many people with CMT also experience a gradual loss of sensation in the feet, legs, hands, and arms. This sensory loss may affect the ability to feel pain, temperature, or touch, and can lead to problems with balance, especially in low-light conditions. <ref name=":6" />

Symptoms and progression of the disease can vary. Involuntary [[bruxism|grinding of teeth]] and squinting are prevalent and often go unnoticed by the person affected. Breathing can be affected in some, as can hearing, vision, and neck and shoulder muscles. [[Scoliosis]] is common, causing hunching and loss of height. [[Acetabulum|Hip sockets]] can be malformed. Gastrointestinal problems can be part of CMT,<ref>{{cite web |url=http://www.lindacrabtree.com/cmt/basics/basics_article1.html |title=CMT News |website=Lindacrabtree.com |access-date=2016-11-13 |archive-url=https://web.archive.org/web/20160805074627/http://www.lindacrabtree.com/cmt/basics/basics_article1.html |archive-date=2016-08-05 |url-status=dead }}</ref><ref>{{cite journal | vauthors = Soykan I, McCallum RW | title = Gastrointestinal involvement in neurologic disorders: Stiff-man and Charcot-Marie-Tooth syndromes | journal = The American Journal of the Medical Sciences | volume = 313 | issue = 1 | pages = 70–73 | date = January 1997 | pmid = 9001170 | doi = 10.1097/00000441-199701000-00012 }}</ref> as can difficulty chewing, swallowing, and speaking (due to atrophy of [[vocal cords]]).<ref>{{cite web |url=http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm#265923092 |title=Charcot-Marie-Tooth Disease Fact Sheet |work=National Institute of Neurological Disorders and Stroke |date=2016-01-14 |access-date=2016-11-13 |archive-date=2016-11-19 |archive-url=https://web.archive.org/web/20161119180504/http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm#265923092 |url-status=dead }}</ref> A [[tremor]] can develop as muscles waste. [[Pregnancy]] has been known to exacerbate CMT, as well as severe emotional stress. Patients with CMT must avoid periods of prolonged immobility, such as when recovering from a secondary injury, as prolonged periods of limited mobility can drastically accelerate symptoms of CMT.<ref name="cmtausaTreat">{{cite press release |title=Treatment and Management of CMT |publisher=Charcot-Marie-Tooth Association |date=October 6, 2010 |url=http://www.cmtausa.org/index.php?option=com_content&view=article&id=74&catid=10&Itemid=51 |access-date=August 26, 2011}}</ref>

Pain is a common symptom experienced by individuals with Charcot-Marie-Tooth disease, often resulting from postural abnormalities, skeletal deformities, muscle fatigue, and cramping. This pain can typically be managed through a combination of physical therapy, orthopedic interventions, and the use of corrective or assistive devices. In cases where these approaches do not provide sufficient relief, analgesic medications may be necessary to alleviate discomfort and improve quality of life.<ref name=":8">{{Cite web |title=Charcot-Marie-Tooth disease |url=https://patient.info/doctor/charcot-marie-tooth-disease |access-date=2025-04-11 |website=patient.info |language=en}}</ref> 

Although the disease is typically slowly progressive and not life-threatening, the degree of disability can vary. Some people may live relatively normal lives with mild symptoms, while others may require orthopedic supports, physical therapy, or even surgery to manage complications.<ref name=":7" />

The variation in symptoms and severity is influenced by the specific genetic mutation causing the condition. While some genes are linked to earlier onset and more severe forms of CMT, others result in milder forms with slower progression. Furthermore, even when the same gene is involved, the symptoms can differ between individuals.<ref name=":6" />

Neuropathic pain is a recognized symptom of Charcot-Marie-Tooth disease, although its presence and severity can vary greatly among individuals, and not all patients experience pain. For some, it can be moderate to severe and significantly interfere with daily activities and overall quality of life. When it presents, the pain experienced in CMT is often similar in character to that observed in other forms of peripheral neuropathy, including postherpetic neuralgia and complex regional pain syndrome. Addressing this symptom typically requires an individualized treatment plan, which may include pharmacological interventions, physical therapy, and other supportive strategies to manage and alleviate discomfort.<ref name="Carter">{{cite journal | vauthors = Carter GT, Jensen MP, Galer BS, Kraft GH, Crabtree LD, Beardsley RM, Abresch RT, Bird TD | title = Neuropathic pain in Charcot-Marie-Tooth disease | journal = Archives of Physical Medicine and Rehabilitation | volume = 79 | issue = 12 | pages = 1560–1564 | date = December 1998 | pmid = 9862301 | doi = 10.1016/S0003-9993(98)90421-X }}</ref>

Charcot-Marie-Tooth disease type 1A (CMT1A) can also include mild enlargement or hypertrophy of leg muscles, particularly the calves, alongside typical symptoms of distal muscle weakness and atrophy.<ref>{{Cite journal |last1=Nan |first1=Haitian |last2=Wu |first2=Yunqing |last3=Cui |first3=Shilei |last4=Sun |first4=Houliang |last5=Wang |first5=Jiawei |last6=Li |first6=Ying |last7=Meng |first7=Lingchao |last8=Nagasaka |first8=Takamura |last9=Wu |first9=Liyong |date=2022 |title=Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report |journal=BMC Neurology |volume=22 |issue=1 |page=17 |doi=10.1186/s12883-021-02538-5 |doi-access=free |pmc=8740465 |pmid=34996390 }}</ref> However, this muscle enlargement typically represents pseudohypertrophy due to fatty tissue infiltration rather than actual muscle growth. <ref>{{Cite journal |last1=Brusse |first1=E. |last2=Perumpillichira |first2=J. C. |date=2014-10-01 |title=G.P.294: Charcot-Marie-Tooth disease type 1A presenting as muscle hypertrophy and muscle cramps |url=https://linkinghub.elsevier.com/retrieve/pii/S0960896614005355 |journal=Neuromuscular Disorders |language=English |volume=24 |issue=9 |pages=910 |doi=10.1016/j.nmd.2014.06.384 |issn=0960-8966}}</ref>

This [[Hypertrophy|hypertrophic]] type of CMT is not caused by the muscles enlarging directly, but by [[pseudohypertrophy]] of the legs as fatty tissue enters the leg muscles.<ref>{{cite journal |last1=Krampitz |first1=Daniel E. |last2=Wolfe |first2=Gil I. |last3=Fleckenstein |first3=James L. |last4=Barohn |first4=Richard J. |title=Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps |journal=Neurology |date=November 1998 |volume=51 |issue=5 |pages=1508–1509 |doi=10.1212/WNL.51.5.1508 |pmid=9818900 }}</ref><ref>{{cite journal |last1=Smith |first1=Thomas W. |last2=Bhawan |first2=Jag |last3=Keller |first3=Robert B. |last4=Degirolami |first4=Umberto |title=Charcot-Marie-Tooth Disease Associated with Hypertrophic Neuropathy: A Neuropathologic Study of Two Cases |journal=Journal of Neuropathology and Experimental Neurology |date=July 1980 |volume=39 |issue=4 |pages=420–440 |doi=10.1097/00005072-198007000-00003 |pmid=6260904 }}</ref><ref>{{cite journal |last1=Brusse |first1=E. |last2=Perumpillichira |first2=J.C. |title=G.P.294 |journal=Neuromuscular Disorders |date=October 2014 |volume=24 |issue=9–10 |pages=910 |doi=10.1016/j.nmd.2014.06.384 }}</ref>