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Russell and Linda – Charcot Marie Tooth Disease

Charcot Marie Tooth Disease

Russell, his mother Linda, and his grandfather Eric were all diagnosed with Charcot Marie Tooth disease in a matter of two years.  Charcot Marie Tooth (CMT) Disease, also known as Hereditary Peripheral Neuropathy, is a genetic condition discovered by 3 doctors (Dr. Charcot, Dr. Marie and Dr. Tooth). There are over 100 causes of CMT and CMT is the most common hereditary neuropathy. It affects approximately 1 in 1500 people making it more prevalent than Muscular Scoliosis. There are a number of associations working to support CMT, one being the Hereditary Neuropathy Foundation.

The diagnosis explains the neuropathy symptoms and gradual decline of the peripheral nerves these three generations experience.  Russell and Linda both talk about their symptoms, frustrations and what the CNA has done for them.

YouTube video

Russell was Director, Community Engagement at the CNA for 2 years, and Linda is President.

When Eric was diagnosed at 77 with Charcot Marie Tooth Disease, it set off a chain of events to discover who else in the family this condition had been passed to. There are over 100 different genetic mutations leading to CMT, and most there is a 50% chance of passing it on to the next generation, but not always.

In the case of this family, only one of Eric’s children was passed the diagnosis, Linda. And of Linda’s two children, only Russell has the condition. We live with neuropathic pain, mainly in the feet, weakening muscles in the legs and hands. We each also have autonomic symptoms like gastro problems, and a level of hearing loss.

Charcot

About Charcot Marie Tooth (1B)

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), encompasses a group of inherited peripheral neuropathies characterized by progressive muscle weakness and sensory loss, primarily affecting the limbs. Among the various subtypes of CMT, type 1B stands out as a distinct form with unique genetic and clinical features.

CMT type 1B is an autosomal dominant neuropathy caused by mutations in the myelin protein zero (MPZ) gene, located on chromosome 1q22-q23. The MPZ gene encodes a structural protein essential for the formation and maintenance of myelin, the insulating sheath surrounding peripheral nerves. Mutations in MPZ lead to abnormalities in myelin structure and function, impairing nerve conduction and causing demyelination.

Clinically, individuals with CMT type 1B typically present with early-onset neuropathic symptoms, often manifesting in childhood or adolescence. The hallmark features include progressive muscle weakness, especially in the lower limbs, resulting in gait abnormalities, foot deformities (such as pes cavus or high arches), and frequent tripping or falling. Sensory deficits, including numbness, tingling, and decreased proprioception, are also common, affecting both touch and vibration sensation.

Nerve conduction studies typically reveal reduced nerve conduction velocities (NCVs) and prolonged distal motor latencies, indicative of demyelination and impaired nerve function. However, unlike other subtypes of CMT type 1 characterized by uniform demyelination, CMT type 1B often exhibits focal or segmental demyelination patterns, leading to clinical variability in symptom severity and distribution.

In addition to motor and sensory impairments, individuals with CMT type 1B may experience secondary complications, including muscle atrophy, joint contractures, and foot deformities, which can further impair mobility and quality of life. Orthopedic interventions, such as corrective surgeries or orthotic devices, may be necessary to alleviate symptoms and improve function.

Management of CMT type 1B primarily focuses on symptomatic treatment and supportive care, as there is currently no cure for the underlying genetic defect. Physical therapy, occupational therapy, and assistive devices (such as ankle-foot orthoses) play crucial roles in maximizing mobility, strength, and independence. Regular monitoring for disease progression and complications, including respiratory involvement and foot ulcerations, is essential for comprehensive management.

To sum it up, Charcot-Marie-Tooth type 1B is a hereditary neuropathy characterized by progressive muscle weakness, sensory loss, and demyelination, resulting from mutations in the MPZ gene. Early diagnosis, multidisciplinary care, and proactive interventions are key to optimizing outcomes and enhancing the quality of life for individuals living with this challenging condition.

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