Keywords Alacrima, anhidrosis, autonomic dysfunction, baroreflex failure, congenital insensitivity to pain, familial dysautonomia (FD), hereditary sensory and autonomic neuropathies (HSAN), insensitivity to pain, orthostatic hypotension Introduction The hereditary sensory…
Keywords CMT, Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsy (HNPP), HNPP, distal hereditary motor neuropathy (dHMN), distal spinal muscular atrophy (dSMA), PMP22, CMT1, CMT2, CMT4, CMTX, MPZ, Connexin…
Keywords Asymmetric crying facies, Bell’s palsy, blink responses, brainstem, facial EMG, facial nerve, facial microsomia, Lyme disease, Moebius syndrome Introduction Facial palsy is one of the most frequent mononeuropathies…
Keywords Nerve root, radiculopathy, plexus, plexopathy, brachial, lumbosacral Anatomy In total, there are 31 spinal nerve root pairs: 8 in relation to the 7 cervical vertebrae, 12 thoracic, 5…
Keywords Spinal muscular atrophy, 5q SMA, non-5q SMAs, survival of motor neuron protein, Werdnig-Hoffman disease, Dubowitz disease, Kugelberg-Welander disease Introduction Spinal muscular atrophies (SMAs) are genetic disorders that are…
Keywords Stiff man, stiff person, stiff child, autoimmune, GAD antibody, GAD65 antibody, diabetes, thyroid, glycine Introduction The stiff-man syndrome (SMS, also known as stiff-person syndrome) is a rare central…
Keywords Poliomyelitis, vaccine associated poliomyelitis, post-polio syndrome, Hopkins syndrome, rabies, tetanus Infantile Poliomyelitis Historical Background To many physicians in the developed world, poliomyelitis serves as a dramatic example of…
Keywords Juvenile amyotrophic lateral sclerosis, jALS, ALS, degenerative motor neuron disease, distal hereditary motor neuropathy (dHMN), distal SMA, Brown-Vialetto-Van Laere (BVVL) syndrome, Madras Motor Neuron Disease (MMND), hereditary spastic paraparesis…
Keywords Arthrogryposis, fetal akinesia sequence, multiple congenital contractures, myasthenia syndromes Introduction Arthrogryposis is a term used to describe the presence of multiple contractures of joints in more than one…
Keywords Hypotonia, clinical assessment, distinguishing features, anatomic loci Introduction Neonatal hypotonia, manifested by the clinical appearance of a “floppy infant” ( Figure 6.1 ) and by diminished resistance to…
