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Books on the topic 'Hereditary motor sensory neuropathies'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Cole, Jonathan. Pride and a daily marathon. MIT Press, 1995.

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2

Andrew, Northern, and CMT International UK, eds. Charcot-Marie-Tooth disease: A practical guide : also known as hereditary motor and sensory neuropathy and peroneal muscular atrophy. CMT International UK, 2000.

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3

Adlkofer, Kathrin. Animal Models for Hereditary Motor and Sensory Neuropathies. 1997.

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4

PRIDE AND A DAILY MARATHON. Duckworth, 1991.

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5

Pride and a daily marathon. Duckworth, 1991.

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6

Shaibani, Aziz. Distal Arm Weakness. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0015.

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Distal arm weakness may be caused by involvement of the intrinsic hand muscles (interossi, thenar and hypothenar muscles, lumbricals) or extrinsic hand muscles (long finger flexors and extensors). ALS is typical for the former type, and IBM is typical for the latter type. Incoordination of skilled finger movement due to cerebellar disease is associated with normal strength. Poor mobility due to joints pain and swelling should not be confused with muscle weakness. Mononeuropathies such as ulnar, radial, median, and AIN,lesions usually cause differential loss of function. Myasthenia sometimes ca

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7

Shaibani, Aziz. Distal Arm Weakness. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0015.

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Distal arm weakness may be caused by involvement of the intrinsic hand muscles (interossi, thenar and hypothenar muscles, lumbricals) or extrinsic hands muscles (long fingers flexors and extensors). Amyotrophic lateral sclerosis (ALS) is typical of the former type, and inclusion body myositis (IBM) is typical for the later type. Incoordination of skilled finger movement due to cerebellar disease is associated with normal strength. Poor mobility due to joint pain and swelling should not be confused with muscle weakness. Mononeuropathies such as ulnar, radial, median, and anterior interosseus ne

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8

Pitt, Matthew. Pathophysiological correlations in neuropathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0004.

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This chapter begins with an explanation of the pathophysiological correlations between the recorded changes and the underlying diagnosis which allow classification into demyelinating and axonal neuropathy. Demyelinating neuropathies are discussed first. The extensive and ever expanding literature in hereditary neuropathies is highlighted. The different variants of the acute inflammatory demyelinating polyneuropathy encountered in children are discussed along with the electrodiagnostic criteria for the diagnosis. Chronic inflammatory demyelinating polyneuropathy is then covered, both in its cli

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9

Popadich, Miriana, and Thomas J. Wilson. Peripheral Nerve Biopsy. Edited by Meghan E. Lark, Nasa Fujihara, and Kevin C. Chung. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190617127.003.0013.

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Nerve biopsy is an important part of the diagnostic armamentarium in the evaluation of a number of diseases, including vasculitis, some hereditary neuropathies, toxic and metabolic neuropathies, inflammatory demyelinating conditions (such as chronic inflammatory demyelinating polyneuropathy), and neoplastic and nonneoplastic infiltrative diseases, such as sarcoidosis, amyloidosis, neurolymphomatosis, and other metastatic tumor infiltration. Options for nerve biopsy include whole-nerve biopsy (e.g., biopsy of the sural nerve, superficial peroneal nerve, or superficial sensory radial nerve) or t

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10

News, PM Medical Health. 21st Century Complete Medical Guide to Charcot-Marie-Tooth Disease (CMT), Hereditary Motor and Sensory Neuropathy (HMSN), Peroneal Muscular Atrophy, Authoritative ... for Patients and Physicians (CD-ROM). Progressive Management, 2004.

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11

Singh, Bhagat, Alban Latremoliere, and Michael Costigan. Congenital insensitivity to pain. Edited by Paul Farquhar-Smith, Pierre Beaulieu, and Sian Jagger. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198834359.003.0078.

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The landmark paper discussed in this chapter is ‘Congenital insensitivity to pain. A clinical, genetic and neurophysiological study of four children from the same family’, published by D. C. Thrush in 1973. The study of patients with congenital conditions that result in pain insensitivity has been invaluable in helping define the molecular mechanisms of sensory processing. These patients share a major defining phenotype (they feel little or no pain from birth), although they often have differing subtle symptoms which belie a host of separate conditions that we have now started to recognize wit

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12

Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson, and Nathaniel M. Robbins. A 35-Year-Old Man with Progressive Left-Hand Weakness. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0001.

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Multifocal motor neuropathy (MMN) may be mistaken for common entrapment neuropathies, although absence of significant sensory findings is a helpful clue to the diagnosis. Multifocal motor neuropathy may also mimic motor neuron disease. Electrophysiological evidence of conduction block at a nerve site not typically prone to compression is consistent with MMN. A positive anti-GM1 antibody also supports the diagnosis. First-line treatment of MMN is intravenous immunoglobulin (IVIG), and the majority of patients have rapid improvement of their weakness. The clinical features, differential diagnosi

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13

Katirji, Bashar. Case 15. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0019.

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Ulnar nerve lesions are the second most common mononeuropathies encountered in clinical practice. The majority of ulnar neuropathies are across the elbow, more specifically due to entrapment or compression of the ulnar nerve at the cubital tunnel or ulnar groove. This case highlights the clinical and electrodiagnostic findings of ulnar neuropathies across the elbow and discusses the challenges in making an accurate diagnosis. Focal slowing of conduction velocities and/or conduction block are the main findings that pinpoint the site of the lesion, while the needle electromyography is poor in ac

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14

Donaghy, Michael. Focal peripheral neuropathy. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0487.

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Some causes of focal peripheral nerve damage are self-evident, such as involvement at sites of trauma, tissue necrosis, infiltration by tumour, or damage by radiotherapy. Focal compressive and entrapment neuropathies are particularly valuable to identify in civilian practice, since recovery may follow relief of the compression. Leprosy is a common global cause of focal neuropathy, which involves prominent loss of pain sensation with secondary acromutilation, and requires early antibiotic treatment. Mononeuritis multiplex due to vasculitis requires prompt diagnosis and immunosuppressive treatme

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15

Katirji, Bashar. Case 23. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0027.

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Guillain-Barré syndrome is the prototype of acute immune-mediated neuropathies. Guillain-Barré syndrome has several subtypes including acute inflammatory demyelinating polyneuropathy, acute motor axonal neuropathy, and acute motor sensory axonal neuropathy. Guillain-Barré syndrome has also several variants including Miller Fisher syndrome, ataxic form, and pharyngeal–cervical–brachial form. This case highlights the clinical findings in Guillain-Barré syndrome and discusses in details the diagnostic criteria that are essential in confirming the diagnosis and excluding mimickers of the disorder.

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16

Shaibani, Aziz. Gait Disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0001.

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Gait is a complicated process that is initiated and maintained by different mechanisms, neurological including neuromuscular, and non-neurological including musculoskeletal. Neuromuscular clinics receive referrals about patients who may have non-neuromuscular disorders such as Parkinsondisease, focal foot dystonia, and multiple sclerosis. It is important for a neuromuscular specialist to be aware of other gait disorders. Important neuromuscular disorders of gait include neuropathies (foot drop, sensory ataxia), myopathies, muscle stiffness and spasms, myotonia, and motor neuron disease. Functi

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17

Katirji, Bashar. Case 3. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0007.

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Sciatic nerve injury is a relatively uncommon lower extremity mononeuropathy. The various etiologies of sciatic neuropathies are highlighted in this case. The clinical manifestations and diagnosis include distinguishing foot drop due to sciatic neuropathy from peroneal (fibular) neuropathy across the fibular neck, L5 radiculopathy, and lumbosacral plexopathy. The electrodiagnostic features of sciatic nerve lesion are separated from those of foot drop due to other peripheral nerve causes. In contrast to sciatic nerve injury, the piriformis syndrome is mostly a painful syndrome with no or minima

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18

Shaibani, Aziz. Gait Disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0001.

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Gait is a complicated process that is initiated and maintained by different mechanisms, both neurological (including neuromuscular) and nonneurological (including musculoskeletal). Neuromuscular clinics receive referrals about patients who may have nonneuromuscular disorders such as Parkinson disease, focal foot dystonia, and multiple sclerosis (MS). It is important for neuromuscular specialists to be aware of other gait disorders as well. Important neuromuscular disorders of gait include neuropathies (foot drop, sensory ataxia), myopathies, muscle stiffness and spasms, myotonia, and motor neu

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19

Harrison, John Henry, and Magdalena Anitescu. Neuraxial Anesthesia in Coexisting Neurologic Conditions. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190271787.003.0041.

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Some patients who need surgery may have coexisting neurologic disorders like multiple sclerosis, amyotrophic lateral sclerosis, peripheral neuropathies (e.g., Charcot-Marie-Tooth disease or Guillain-Barré syndrome), or muscular dystrophies (e.g., Duchenne’s or myotonic dystrophy). When neuraxial analgesia and anesthesia are indicated, the anesthesiologist should be aware of the risks and benefits of the technique. Neuraxial anesthesia is not absolutely contraindicated in nervous system diseases and there are undeniable benefits to ruling out general anesthesia. In patients with coexisting neur

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20

Mochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.

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Spastic paraplegia type 5 (SPG5) is an autosomal recessive hereditary spastic paraplegia due to mutations in CYP7B1, which encodes oxysterol 7α‎-hydroxylase. Oxysterol 7α‎-hydroxylase is involved in the synthesis of bile acids from cholesterol. CYP7B1 mutations are responsible for rare forms of liver failure in infancy as well as lower motor neuron degeneration in adults with no obvious genotype-phenotype correlation. SPG5 is mostly characterized by spastic paraplegia with prominent posterior column sensory impairment that can lead to sensory ataxia and bladder dysfunction. SPG5 can easily be

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21

Mills, Kerry R. Disorders of single nerves, roots, and plexuses. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0021.

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The role of electromyography (EMG) and nerve conduction studies in disorders of single nerve, root, and plexus lesions are discussed. The motor and sensory anatomy underpinning diagnosis is described and a scheme presented showing the key muscles to be examined using EMG to differentiate nerve, plexus, and root lesions. The main causes of mononeuritis multiplex, of either axonal degeneration or demyelinative pathology, are covered, including diabetic neuropathy, vasculitic neuropathy, multifocal motor neuropathy with block, and the Lewis–Sumner syndrome. The confirmatory role of EMG and nerve

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