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August 22, 2019August 22, 2019

Study Examines Respiratory Muscle Weakness in Ambulatory CMT1A Patients

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Even if not experiencing overt clinical signs, Charcot-Marie-Tooth Disease Type 1A (CMT1A) patients able to walk show respiratory muscle weakness associated with phrenic nerve damage, according to a new ... Read more

August 20, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more

August 20, 2019August 20, 2019

Hearing Aid Trials Recommended After Study Reports Variable Hearing Problems

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Hearing aid trials are recommended for people with Charcot-Marie-Tooth disease (CMT), as hearing problems are variable in this patient population, a study reports. Patients showed particular difficulty in hearing ... Read more

August 13, 2019August 13, 2019

Neutral Lipid-Enriched Diet Improves Nerve Protection in CMT Mouse Model

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Mice carrying a mutation identical to that producing an early-onset, severe form of Charcot-Marie-Tooth (CMT) disease fed with a neutral lipid-enriched diet showed improved myelinization (the growth of the ... Read more

August 8, 2019August 8, 2019

PMP22 Defects May Be Link Between CMT1A and MS, Case Report Says

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Defects in PMP22, the protein involved in Charcot-Marie-Tooth disease type 1A (CMT1A), might play a role in the loss of myelin — the fatty substance that protects nerve fibers ... Read more

August 6, 2019August 6, 2019

Report Describes Boys Diagnosed with CMTX After Stroke-like Symptoms

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Two boys with neurological deficits suggestive of acute ischemic stroke were ultimately diagnosed with Charcot-Marie-Tooth disease type X (CMTX) following the detection of white matter lesions characteristic with the ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

August 1, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage ... Read more

July 29, 2019July 29, 2019

HNF’s Estela Lugo Helps Raise Awareness of CMT

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Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies, affecting an estimated 150,000 Americans. But very few people outside the CMT community have ever heard of the ... Read more

July 25, 2019July 25, 2019

Natural History Study of CMT4J Aims to Support Future Development of Gene Therapy Trial

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The first patient has been enrolled in what’s regarded as the first natural history study of Charcot-Marie-Tooth disease type 4 (CMT4J), with the ultimate goal of one day developing ... Read more

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