Charcot Marie Tooth Syndrome

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From The National Institute of Neurological Disorders and Stroke:

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 – Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies.

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What are the symptoms of Charcot-Marie-Tooth disease?

The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.)  A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an “inverted champagne bottle” appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).

Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in mid-adulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.

Affected Population:

PKAN affects one in 1 million people and is caused by genetic defects.

 

Genetics

PKAN is inherited and is called an autosomal recessive disorder.

 

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Contact these non-profit organizations to learn more about CMT:

Charcot-Marie-Tooth Association

Hereditary Neuropathy Foundation

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CMT Updates

  • 'Lived experience': finally, a disability reporter who has a disability 02 Jan 2021 19:08 The Guardian The ABC’s national disability affairs reporter, Nas Campanella, says the stories she covers never cease to shock her and can even make her teary. “In some ways I’m not surprised that certain things are happening because they happened to me or people I know …
  • Future Scope for Charcot-Marie-Tooth Disease Type I A Drug Market Share, Trends, Business Strategy and Forecast to 2026 11 Dec 2020 18:08 Courier Charcot-Marie-Tooth Disease Type I A Drug Market Industry Forecast To 2026 Garner Insights has titled a new research report named as Charcot-Marie-Tooth Disease Type I A Drug Market 2020 to its consistently extending database. The report clarifies this …
  • Senegal World Cup Hero Papa Bouba Diop dies at 42 01 Dec 2020 00:05 The Maravi Post LONDON-(MaraviPost)-Papa Bouba Diop, a Senegal football icon and former Portsmouth and Fulham midfielder, has died at the age of 42. Bouba Diop had been suffering with a long-time illness, Charcot-Marie-Tooth disease. Diop secured his place in his country’ …
  • Another Football World Cup Star Dies. 30 Nov 2020 08:49 Zim Eye Another Football World Cup Star Dies. Papa Bouba DiopPapa Bouba Diop, a former midfielder who represented Senegal more than 60 times and played for several European football clubs, has died at the age of 42, reportedly following a long illness. Diop scored …
  • Senegal World Cup hero Papa Bouba Diop dies aged 42 29 Nov 2020 23:38 The Zimbabwe Mail Papa Bouba Diop Former Premier League star Papa Bouba Diop has passed away at the age of 42. According to a number of reports, Bouba Diop had been suffering with a long-time illness, Charcot-Marie-Tooth disease. His former club, RC Lens, paid tribute on …
  • Former Senegal midfielder Papa Bouba Diop dies at 42 29 Nov 2020 21:02 Al Jazeera Tributes pour in for Senegalese footballer who scored the first goal of the 2002 World Cup against title holders France. Papa Bouba Diop, a former midfielder who represented Senegal more than 60 times and played for several European football clubs, has …
  • Senegal Legend Bouba Diop Dies After Illness 29 Nov 2020 20:11 Complete Sports Former Senegalese star Papa Bouba Diop has passed away at the age of 42. According to reports, Bouba Diop had been suffering with a long-time illness, Charcot-Marie-Tooth disease. His former club, RC Lens, paid tribute on Twitter, writing: “It is with …
  • Papa Bouba Diop dies at 42 29 Nov 2020 20:08 Daily Post Former Senegal midfielder, Papa Bouba Diop, has died at the age of 42. According to the UK Mirror, Bouba Diop had been suffering with a long-time illness, Charcot-Marie-Tooth disease. His former club, RC Lens, paid tribute on Twitter, writing: “It is with …
  • Senegal World Cup hero and ex-Premier League star Papa Bouba Diop dies aged 42 29 Nov 2020 18:14 Daily Mirror Former Premier League star Papa Bouba Diop has passed away at the age of 42. According to a number of reports, Bouba Diop had been suffering with a long-time illness, Charcot-Marie-Tooth disease. His former club, RC Lens, paid tribute on Twitter, writing: …
  • Three Brothers Bond Over Shared Rare Disease 24 Nov 2020 05:10 Newswise Compelling HD Video Available Newswise — LOS ANGELES (Nov. 23, 2020) -- The Minister brothers, Larry, Drew, and Justin, have a lot in common, including their love of the outdoors and a family passion for off-roading in the Nevada dessert. But what really …
  • Accessibility issues prompt student with wheelchair to leave university 17 Nov 2020 00:46 Charger Bulletin - Connecticut Continuation of “Student with Wheelchair Speaks Out About Campus Inacessability and Safety Issues.” Maria (Ria) Maisonet spent her freshman year at the University of New Haven fighting to make the campus more accessible. Maisonet has Charcot-Marie-Tooth …
  • Passage Bio, Inc. (PASG) CEO Karl Bruce Goldsmith on Q3 2020 Results - Earnings Call Transcript 10 Nov 2020 22:02 Seeking Alpha Passage Bio, Inc. (NASDAQ:PASG) Q3 2020 Earnings Conference Call November 10, 2020 8:30 AM ET Company Participants Zoe Mita - IR, Stern Investor Relations, Inc. Bruce Goldsmith - President and Chief Executive Officer Rich Morris - Chief Financial Officer …
  • Pharnext: Shareholder Letter 29 Oct 2020 10:22 GuruFocus.com PARIS, FRANCE / ACCESSWIRE / October 29, 2020 / Pharnext SA (FR0011191287 - ALPHA), an advanced late-stage clinical biopharmaceutical company pioneering new approaches to developing innovative drug combinations based on big genomics data and …
  • These artists living with disability get back the 'creative mojo' post-COVID — and this retreat is the secret 22 Oct 2020 22:48 ABC (Australian Broadcasting Corporation) These female artists living with disabilities have been freed from months of isolation due to coronavirus lockdowns — and now they've reignited their creative minds in the Australian bush. An artists' residency, organised for them by the Bundanon …
  • Robert’s love for politics 20 Oct 2020 17:48 Vermilion Today - Louisiana ERATH - While most nine and 10-year-old boys only cared about playing outside or playing video games, Robert Vincent developed a love for politics and the satisfaction of helping people through politics. Vincent spent countless hours hanging around adults …
  • Wheelchair rugby league on a roll in Queanbeyan 18 Oct 2020 07:15 RiotACT Matthew Collins (3rd from left) with Canberra Raiders players during a recent wheelchair come and try day. Photo: CRRL. When Bradley Burns and Matthew Collins face off in the City v Country wheelchair rugby league match at Queanbeyan today (18 October), …
  • Teenager’s skydive raises more than £500 for muscular dystrophy research 10 Oct 2020 14:59 East Anglian Daily Times PUBLISHED: 15:20 10 October 2020 | UPDATED: 15:20 10 October 2020 Matthew Earth Danny Parker, from Newmarket, shed five stone to complete the skydive Picture: MUSCULAR DYSTROPHY UK Archant A Newmarket teenager who shed a massive five stone for a skydive in …
  • Erath's Robert Vincent passes away 08 Oct 2020 20:49 Vermilion Today - Louisiana ERATH — A considerable part of the Erath community passed away on Thursday. Robert Vincent lost his 30-year battled with degenerative nerve disease known as Charcot-Marie-Tooth Disorder (CMT). “It was my life as it was,” the Erath native told the Daily …
  • Helixmith to Participate in Scientific Conferences in October 05 Oct 2020 14:36 SF Gate - California Helixmith, a clinical stage gene therapy company, announced participation in the following scientific conferences in October October 12 – 16: 2020 Virtual Cell & Gene Meeting on the Mesa. Sunyoung Kim, D. Phil, Chief Executive Officer of Helixmith, …
  • Helixmith Announces Acceptance of Abstracts for 2020 Annual... 30 Sep 2020 14:44 SF Gate - California Helixmith, a gene therapy company, announced today that three abstracts have been accepted for poster presentations at the virtual 2020 Annual NEALS Meeting to be held September 30th and October 1st. SAN DIEGO (PRWEB) September 30, 2020 Helixmith, a gene …

CMT Treatment Case Studies

WashU

Learn more about the Fort Study here.

Related Terms:

Eye of the Tiger

MRI

Iron accumulation

NBIA Disorders

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