Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized
by age of symptom onset less than 25 years and a variable presentation. Objective To …

Purpose: Although patients with neurofibromatosis are predisposed to multiple nerve sheath
tumors that can develop anywhere in the body and cause significant morbidity (eg, hearing …

Aim As relationships between autistic traits, epilepsy, and cognitive functioning remain
poorly understood, these associations were explored in the biologically related disorders …

PURPOSE: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disorder,
with an approximate incidence of 1 in 3,500. Optic pathway gliomas (OPGs) develop in 15% …

Multidisciplinary care is considered the standard of care for both adult and pediatric neuromuscular
disorders and has been associated with improved quality of life, resource utilization, …

Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. A
mutation in the DMD gene disrupts dystrophin (protein) production, causing damage to …

Background: Clear cell adenocarcinomas (CCAs) of the vagina and cervix are rare tumors
that often overexpress wild-type p53. In vitro, expression of protooncogene bcl-2 can block …

The case of a 3-year-old patient with tuberous sclerosis and a 13-mm Chiari malformation
Type I that spontaneously disappeared over the course of 4 years is presented. Using …

SPTLC1 encodes a critical subunit of serine palmitoyltransferase, the enzyme catalyzing the
first and rate-limiting step in de novo sphingolipid biosynthesis, and mutations in this gene …

… In the meantime, the FDA’s requirement for another clinical trial is reasonable, says Fawn
Leigh, director of the pediatric neuromuscular service at Massachusetts General Hospital in …