An affordable, portable, and non-invasive human motion tracking system based on an RGB-D camera can be useful for monitoring gait impairments in people with familial amyloid polyneuropathy (FAP), a study shows. Using such a tracking system can provide a more accurate assessment compared with the subjective measures…
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
The addition of the amino acid homocysteine to the mutated transthyretin (TTR) protein found in patients with familial amyloid polyneuropathy may contribute to heart problems in these patients, a recent study suggests. Specifically, this addition destabilizes and promotes the aggregation of mutant TTR protein, but it does not affect the…
Autonomic symptoms are common among patients with hereditary ATTR amyloidosis, usually accompany the progression of peripheral neuropathy, and are more prevalent in carriers of Val30Met mutations, a review of studies concluded. The research, “Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic…
The case of a 17-year-old boy who experienced the first symptoms of familial amyloid polyneuropathy (FAP) before the age of 3, calls attention to the possibility of pediatric cases of the disease that require special diligence for timely diagnosis and treatment. The case report, “Extremely Early Onset…
Vyndaqel (tafamidis) increases the stability of the transthyretin protein and may help people with familial amyloidosis polyneuropathy (FAP) carrying a TTR gene mutation common in Asian populations, an early study from Taiwan suggests. …
As early detection and management of gastrointestinal (GI) disturbances is key in familial amyloid polyneuropathy (FAP), gastroenterologists should be part of a multidisciplinary team to treat these patients, a study suggests. The research, “Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis,” was published in the journal…
Noninvasive imaging techniques may be helpful for identifying and monitoring eye problems in familial amyloid polyneuropathy (FAP), a study shows. Titled “Multimodal retinal imaging of familial amyloid polyneuropathy,” the study was published in Ophthalmic Genetics. FAP is caused by misfolding of the protein transthyretin (TTR), which then…
Genetic sequencing can help to diagnose familial amyloid polyneruopathy (FAP) in people diagnosed with neuropathy of unknown origin — and sequencing is more reliable than biopsies for diagnosis, the results of a recent study suggest. The study, titled “Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…