The Law Offices of Charles Dunn
Lubbock County Medical Malpractice Attorney
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Hereditary neurological diseases often misdiagnosed

Hereditary disorders with neurological effects can be medically devastating, but many times people with these disorders need to wait long periods before receiving an effective diagnosis. Two such illnesses include Charcot-Marie-Tooth disease, or CMT, and familial amyloid polyneuropathy, or FAP. Both disorders often have an onset around the age of 20, and they can sometimes be confused for one another. A proper diagnosis is critical in order to provide the correct treatment that can significantly improve patients' quality of life.

FAP can appear in a patient's early 20s, but some cases begin later in life in a person's 30s or even 50s. A protein called amyloid deposits in abnormal locations in a person's body, causing nerves related to sensation and movement to deteriorate. These amyloid deposits can interfere with the nerves that regulate heart function as well as urinary and digestive systems. The disorder can lead to heart failure and even death. Research indicates that the genetically linked disorder is caused by a mutation in the TTR gene.

People with different forms of FAP can be misdiagnosed as having other neurological disorders, such as CMT type 2. CMT is the most common inherited disorder of the nerves and muscles, and it has distinct features, including weakness and shrinkage of the hands and feet. However, studies indicate that the telltale TTR gene is rarely mutated in properly diagnosed CMT patients. On the other hand, the gene mutation could indicate that a patient actually has FAP.

Mistaken diagnoses or the failure to diagnose an illness can be devastating, especially when a disease is progressive. Early treatment could help stop or reverse the progression of a disorder, and a physician's misdiagnosis could lead to a severely worsened medical condition. People who have been misdiagnosed might consult with a medical malpractice attorney to review their case and discuss the options for legal action.

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