Explore the latest in neuromuscular diseases from The JAMA Network, including myasthenia gravis, muscular dystrophies, peripheral and other neuropathies, and more.
This Advances in Diagnosis and Treatment review of the literature identifies best available evidence for early, accurate diagnosis of cerebral palsy and summarizes best available early intervention evidence to optimize neuroplasticity and functional outcomes.
This epidemiologic register-based study examines the 20-year epidemiologic trends of amyotrophic lateral sclerosis in the Piemonte and Valle d’Aosta regions of Italy.
This cohort study of patients with early-stage colorectal cancer examines whether prediagnostic systemic inflammation is associated with at-diagnosis sarcopenia and explores whether these factors interact to predict cancer survival.
A woman in her early 20s presented with 1 year of discrete asymptomatic brown lesions distributed over her lower extremities; she denied any history of trauma or prior lesions at these sites and denied fever, arthralgias, myalgias, or constitutional symptoms. What is your diagnosis?
This cohort study aims to elucidate the clinical features of myositis in patients with antisynthetase syndrome.
A 14-year-old girl presents with fever, malaise, photophobia, phonophobia, headache, nausea, vomiting, and neck stiffness. What would you do next?
A woman in her 50s was referred to genetic consultation owing to mitochondrial myopathy or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy suspicion based on brain magnetic resonance imaging and was diagnosed as having myotonic dystrophy type 1.
This population-based cohort study quantifies the prevalence of long-term opioid use among patients with polyneuropathy and assesses the association of long-term opioid use with functional status, adverse outcomes, and mortality.
A 7-year-old healthy boy had recurrent painless tongue masses since birth that would resolve spontaneously over the course of days to weeks. The lesions were usually white and the size of a pinhead, and located on the anterior portion of the tongue. What is your diagnosis?
This cohort study examines the prognostic significance of C-reactive protein in amyotrophic lateral sclerosis.
This case series study examines the myopathy, lactic acidosis, and sideroblastic anemia associated with YARS2-related mitochondrial disease.
This study characterizes the transcriptomics of peripheral monocytes in patients with amyotrophic lateral sclerosis.
This experimental study uses a mouse model to determine whether human induced pluripotent stem cells derived from motor neurons can engraft in an immunodeficient mouse model of sciatic nerve injury.
This randomized clinical trial assesses whether magnesium oxide supplementation is better than placebo for reducing the frequency of nocturnal leg cramps.
This study assesses the ability of neurofilament light chain to serve as a diagnostic biomarker in amyotrophic lateral sclerosis and the prognostic value of cerebrospinal fluid neurofilament light chain in patients with amyotrophic lateral sclerosis.
A 21-year-old man had recurrent, transient episodes of dysarthria, dysphagia, and limb weakness over 3 days and later developed weakness and numbness of his limbs, with more severe symptoms on the right side. What is your diagnosis?
This study examines the incidence of sarcopenia in patients with squamous cell carcinoma undergoing total laryngectomy.