Familial Dysautonomia Inherited disorder of autonomic and peripheral nervous systems plus somatic growth. Genetics: autosomal recessive, almost exclusively in Eastern European Ashkenazi Jewish people. One of two possible mutations in…
Acute Autonomic Neuropathy Generalized autonomic dysfunction of unknown etiology. Also known as acute pandysautonomia. May be subacute. Often preceded by acute illness of presumed viral origin as in Guillain-Barré syndrome….
Neurogenic Orthostatic Hypotension and Autonomic Failure Orthostatic hypotension (OH): fall of 20 mmHg in systolic blood pressure or 10 mmHg diastolic within 3 minutes after changing position from supine to…
Central Pontine Myelinolysis Symmetric destruction of myelin in basis pontis, precipitated by rapid correction of hyponatremia. Often with chronic alcoholism, malnutrition. Signs and symptoms 2 to 3 days after rapid…
Marchiafava-Bignami Disease Demyelination of corpus callosum without inflammation; other CNS areas may be involved. Etiology and Pathogenesis Primary degeneration of corpus callosum; may extend to anterior commissure, posterior commissure, centrum…
Multiple Sclerosis Definition Chronic disease of young adults; characterized pathologically by multiple central nervous system white matter lesions. Epidemiology Age at onset: peaks at 20 to 30 years; rare before…
Myositis Ossificans Deposition of bone in subcutaneous tissue and along fascial planes in muscle. Probably sporadic appearance of an unidentified mutation. Primary disorder may be in connective tissue (fibrodysplasia ossificans)….
Polymyositis, Inclusion Body Myositis, and Related Myopathies Polymyositis Definition Polymyositis: acute or subacute onset; sometimes spontaneous improvement; infiltration of muscle by lymphocytes. Occurs alone or as part of systemic disease…
Dermatomyositis Pathology and Pathogenesis Autoimmune disease of skin and muscle. Degeneration, regeneration, edema, infiltration by lymphocytes in both tissues. Inflammatory cells (predominantly B cells) around small vessels or in perimysium;…
Muscle Cramps and Stiffness Stiffness: continuous muscle contraction at rest. Cramps (spasms): transient, painful, involuntary contraction of muscle or group of muscles; lasts seconds to minutes. Causes listed in Table…
