Spinal Muscular Atrophy Type I (Werdnig-Hoffmann Disease). In the healthy newborn infant, the purposeless movements of the extremities are associated with a well-defined muscular tone, despite the lack of coordinated…
TREATMENT To date, riluzole is the sole Food and Drug Administration (FDA)-approved drug for the treatment of ALS. Several randomized trials have demonstrated that riluzole prolongs the life of ALS…
DIAGNOSIS In a patient with symptoms of footdrop or an atrophied hand, the diagnosis usually considered is an isolated lesion of a peripheral nerve or nerve root. If such a…
Juvenile monomelic amyotrophy (JMA) is characterized by insidious onset of unilateral or asymmetric muscular atrophy and weakness of the hand and forearm in the absence of sensory or pyramidal signs….
The signs and symptoms characteristic of many of these diseases (e.g., PMA, PLS) eventually evolve in most patients to demonstrate mixed upper and lower motor neuron involvement and thus a…
Cognitive dysfunction is present in up to 60% of patients with ALS and can range from mild impairment of word fluency to frontotemporal lobe dementia. This discovery has led to…
Some muscles are huge. The gluteus maximus has many thousands of muscle fibers essential to walking. Miniscule muscles are designed to produce the slightest movements of the eardrum or the…
Each neuronal cell body contains many dendrites, which are peripheral extensions from the cell body that, along with the smaller dendritic spines (gemmules), receive the input from other neurons. Each…
The peripheral somatic sensory neurons are bipolar neurons. The sensory neuron cell bodies reside in the dorsal root ganglion, that is, situated posterolateral to the spinal cord, usually at or…
Hypotonia and weakness are the major clinical features. Other characteristic features such as scoliosis, ptosis, and ophthalmoplegia may not be apparent at birth, and diagnosis may be delayed until gross-motor…
