Neuromuscular Disease: A Case-Based Approach by John H. J. Wokke, Pieter A. van Doorn, Jessica E.

By John H. J. Wokke, Pieter A. van Doorn, Jessica E. Hoogendijk, Marianne de Visser

There are over six hundred neuromuscular problems and the range of those syndromes can go away clinicians feeling as though they're misplaced in a maze as they search to diagnose and deal with sufferers. This publication addresses this challenge by utilizing the case-history and symptom manifestation as a place to begin for the diagnostic technique in grownup sufferers, mimicking the placement within the treatment room. for every case, diagnostic instruments, disorder pathogenesis, analysis and treatments are mentioned, besides infrequent manifestations and differential diagnoses. indicators, symptoms and syndromes are cross-linked to aid the reader navigate the range of problems. Accompanying tables provide a broader photograph of the manifestations of a specific disorder in the panorama of neuromuscular issues. This highly-illustrated e-book, with accompanying video clips, will relief neurologists in any respect degrees, internists, geneticists, rehabilitation physicians and researchers within the box, as they search to familiarize themselves with this advanced diversity of issues.

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There is substantial overlap of phenotypes between PLS and hereditary spastic paraplegia (HSP) with mutations in SPG4, SPG7, and possibly other yet unrecognized genes. Current clinical criteria are not always useful for distinguishing between PLS and HSP in individual patients. 1). Suggested reading Brugman F, Veldink JH, Franssen H, et al. Differentiation of hereditary spastic paresis from primary lateral sclerosis in psoradic adult-onset upper motor neuron syndromes. Arch Neurol 2009; 66: 509–514.

Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular attrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995; 52: 518–523. Postpoliomyelitis syndrome: a retired psychoanalyst who was misdiagnosed as spinal muscular atrophy type 3 Clinical history Examination In 1956, the patient, who at that time was 18 years old, experienced onset of weakness in his left arm and both legs associated with a fever. No diagnosis was reached.

He had bilateral foot drop. The masseter reflex and biceps brachii reflexes were hyperactive. His knee reflexes were normal and the Achilles tendon reflexes hypoactive. There was no Babinski sign. Sensation was normal. Lung vital capacity (VC) was 80% of that expected. Ancillary investigations CK activity was five times ULN. Needle EMG showed widespread spontaneous muscle fiber activity and neurogenic MUPs in arm, leg, and paraspinal muscles and fibrillations in the tongue. Motor nerve conduction was normal.

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