Peripheral Polyneuropathy Part 1: Evaluation and Differential Diagnosis

[…] Cardiovascular: heart rate variability, peripheral pulses, capillary refill Skin: temperature, color, hair or lack thereof, nail bed changes (e.g., Mees’ lines) Lymphatic: assess for lymphadenopathy Musculoskeletal Gait assessment including heel walk, toe walk, monitor for pathology: steppage, vaulting, foot drop, […]

Congenital Myotonic Dystrophy

[…] Families should understand the 50% chance of having an affected child with each pregnancy involving an affected parent, and worsening severity with each succeeding generation. Every generation requires good interdisciplinary medical care to optimize lifespan and function along the lines described above, with the avoidance of the few specific medications that may cause harm. These include succinylcholine, rocuronium, remifentanil, sedatives, and opioids. There is also a Myotonic Dystrophy Family Registry to enter that helps identify participants for research studies and clinical trials. This can be found on clinicaltrials.gov. Measurement of Treatment Outcomes including those that are impairment-based, activity participation-based and environmentally based Wee-FIM, CHART, and any standardized tool for mobility, ADL, and health-related QOL could be used. ADL independence should be expected. Participation in regular classroom education with integration is usually ideal. Even if special education resources are needed, observance of least restrictive environment and avoidance of homebound services that are not medically necessary should be considered. Participation in online disease-specific support groups and registries could also be a measure of successful education and engagement. Translation into Practice: practice “pearls”/performance improvement in practice (PIPs)/changes in clinical practice behaviors and skills Consider circumstances of the entire family when caring for children with early onset disease, particularly health and participation of caregivers facing related health issues with their own progression. Differentiate congenital DM1 from SMA or other causes of hypotonia on the basis of clinical presentation, targeting the optimal genetic diagnostic strategy. Provide direct help and/or referrals for the entire spectrum of physiological and psychosocial deficits associated with this condition to optimize well-being and desired outcomes. Cutting Edge/ Emerging and Unique Concepts and Practice Small molecule therapeutics, antisense oligonucleotide (ASO)-based therapy, and genome editing targeting DNA, RNA, or downstream signaling pathways are being trialed. Measurements of spliced RNA products, used as biomarkers, are being assessed as well to assist with tracking disease response. Tideglusib, a selective and irreversible glycogen synthase kinase 3 inhibitor is undergoing clinical trial and is in the recruitment phase. Participants aged => 6 and

Nerve Conduction Studies

[…] axillary nerve,23 accessory nerve23 and medial femoral sensory nerve.24 The goal of these studies is to follow the NDTF guide lines3,4 to develop standardized reference values for these lesser-studied proximal nerves. There is also research investigating the role of limb […]

Basic Electrodiagnostics for the Referring Physician

[…] utilizing nerve conduction studies (NCSs) and needle electromyography (EMG), and the determination of a final diagnosis. According the AANEM’s guide lines, the interpretation of NCS without an EMG does not meet its standards, and should be the exception in certain […]

Hereditary Spastic Paraplegia

Disease/ Disorder Definition Hereditary spastic paraplegia (HSP) is a group of clinically and genetically diverse inherited neurodegenerative disorders that cause lower limb spasticity and weakness. HSP syndromes have traditionally been classified as either uncomplicated (pure) or complex (formerly called “complicated”).1-3

Upper Gastro-intestinal Problems in Patients with Disorders of the CNS (Excluding Dysphagia)

[…] case report and review. Spinal Cord. 2002;40(2):88-91 Branch CL Jr, Albertson DA, Kelly DL. Post-traumatic acalculous cholecystitis on a neurosurgical service. Neurosurgery. 1983;12(1):98-101. Tola VB, Chamberlain S, Kostyk SK, Soybel DI. Symptomatic gallstones in patients with spinal cord injury. J […]

Achilles Tendinopathy

Disease/Disorder Definition Achilles tendinopathy (AT) is an umbrella term used to describe a spectrum of tendon disorders including tendinosis and paratendinopathy, which all present with similar clinical symptoms of pain, swelling and impaired Achilles tendon function. Tendinopathy can be acute

Geriatric Gait and Balance Disorders

Disease/ Disorder Definition Normal human gait is a complex phenomenon. It is defined as a series of rhythmic, alternating movements of the limbs and trunk that result in forward progression while minimizing the displacement of center of gravity. This is

Limb Girdle Muscular Dystrophies

[…] versus multistory, steps to enter, owning versus renting for modifications. Setting of home: urban versus rural may affect availability of services. Work Environment: Office work versus manual labor. Social role and social support system Assessment of the patient’s social status […]

Hematological, Metabolic and Endocrine Complications of CNS Injury

[…] system. These systems regulate cellular nutrition, energy consumption, oxygenation, and waste removal, which in turn control tissue growth and rep air. Subsequently, these changes impact normal organ system functions that lead to various hematological, metabolic, and endocrine complications. Some complications […]