Three Brothers, illustrating an Unusual Form of Family Paralysis (Familial Lateral Sclerosis with Amyotrophy)
نویسندگان
چکیده
منابع مشابه
An unusual form of familial acrocephalosyndactyly.
A family is described in which at least six members have an unusual form of acrocephalosyndactyly showing autosomal dominant inheritance. The most characteristic feature in the more severely affected individuals is duplication of the distal phalanx of the hallux. Review of family photographs suggests that the cosmetic outcome in apparently affected infants may be much better than anticipated.
متن کاملPROLONGED PARALYSIS AS AN UNUSUAL PRESENTATION OF RENAL TUBULAR ACIDOSIS
A case of renal tubular acidosis (RTA) who had gradual onset of paralysis of lower extremities and persisted for a long time is presented. His primary workups were mistaken for muscular dystrophy. Eventually, an abdominal ultrasonography revealed small stones in both of the kidneys and his workup for the stones were in favor of distal renal tubular acidosis and advanced rickets with hypokal...
متن کاملAn Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report
Objective(s): Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing genes that have been identified, mutations in SOD1 and C9orf72 are the most common genetic causes...
متن کاملA familial form of pallidoluysionigral degeneration and amyotrophic lateral sclerosis with divergent clinical presentations.
We describe a family with a rapidly progressive neurodegenerative disorder characterized by amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) but with unusual neuropathologic features that include pallidoluysionigral degeneration. The proband presented with primary progressive aphasia that evolved into mutism. He subsequently developed dementia with mild disinhibition and pa...
متن کاملAn Amyotrophic Lateral Sclerosis Like Symptoms Associated with Lead Toxicity
Abstract Lead is a heavy metal that affects many organs such as nervous system, liver, and kidney. The most important affected organ is central nervous system. The present study reported a case similar to Amyotrophic lateral sclerosis (ALS) due to lead exposure in an opium addicted person. The patient complaint was the weakness of upper and lower limbs in addition to the unsteadiness of gait...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1912
ISSN: 0035-9157
DOI: 10.1177/003591571200500828