Myopathy and Motor Neuron Disorders

This chapter deals with the main varieties of muscular dystrophy and their differential diagnosis, including dystrophia myotonica, Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, limb girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy and oculopharyngeal muscular dystrophy. Diagnostic clues are given for the main neuromuscular junction disorders, including myasthenia gravis and Lambert-Eaton myasthenic syndrome. Inflammatory and dysthyroid myopathies are evaluated. Also appraised are periodic paralysis, McArdle’s syndrome, mitochondrial, distal, and medication-induced myopathy. The characteristic features of amyotrophic lateral sclerosis and its mimics are debated as well as various forms of bulbar palsy. Hereditary spastic paraplegia and its variants are also included in the chapter.

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Myopathy and Motor Neuron Disorders

Instant Neurological Diagnosis ◽

10.1093/med/9780190930868.003.0007 ◽

2019 ◽

pp. 171-210

Author(s):

Christopher H. Hawkes ◽

Kapil D. Sethi ◽

Thomas R. Swift

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Differential Diagnosis ◽

Muscular Dystrophy ◽

Motor Neuron ◽

Hereditary Spastic Paraplegia ◽

Periodic Paralysis ◽

Myasthenic Syndrome ◽

Mcardle's Syndrome ◽

Characteristic Features ◽

Lateral Sclerosis

The first part of this chapter deals with the main varieties of muscular dystrophy and their differential diagnosis, many of which are instantly recognizable. Handles are given for the main neuromuscular junction disorders including, myasthenia gravis and Lambert-Eaton myasthenic syndrome. Inflammatory and dysthyroid myopathies are evaluated. Also appraised are periodic paralysis, McArdle’s syndrome, and mitochondrial, distal, and medication-induced myopathy. In the second section, motor neuron disorders are discussed, in particular the characteristic features of amyotrophic lateral sclerosis and its mimics as well as various forms of bulbar palsy. Hereditary spastic paraplegia and its variants are discussed and how they can simulate other diseases.

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Ophthalmoplegia

10.1093/med/9780199898152.003.0004 ◽

2015 ◽

Author(s):

Aziz Shaibani

Keyword(s):

Family History ◽

Muscular Dystrophy ◽

Myasthenia Gravis ◽

Eye Movement ◽

Congenital Myasthenic Syndrome ◽

Oculopharyngeal Muscular Dystrophy ◽

Detailed Family History ◽

Myasthenic Syndrome ◽

The Brain

Ophthalmoplegia is usually chronic and therefore diplopia is not a feature. There is enough time for the brain to suppress one image. It is amazing how much impairment of eye movement has to occur before the patient becomes concerned or considers it as abnormal. Neglected myasthenia gravis may be confused with mitochondrial ophthalmoplegia or oculopharyngeal muscular dystrophy or even congenital myasthenic syndrome. Central cause of ophthalmoplegia should be ruled out first by performing doll’s eye movement. Detailed family history looking in particular for ptosis, ophthalmoplegia, and dysphagia is diagnostically very useful. Non neurological causes of ophthalmoplegia such as severe exophthalmus, and retroorbital pathology should be considered.

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Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences ◽

10.2458/v1i2.12366 ◽

2011 ◽

Vol 1 (2) ◽

Author(s):

Melinda F. Davis ◽

Katalin H. Scherer ◽

Timothy M. Miller ◽

F. John Meaney

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Muscular Dystrophy ◽

Disease Severity ◽

Muscle Weakness ◽

Respiratory Function ◽

Rating Scale ◽

Becker Muscular Dystrophy ◽

Progressive Muscle Weakness ◽

Lateral Sclerosis ◽

Disease Specific

Reports an error in Davis et al. (2010). The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997). Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness. This error does not change the conclusions. DOI:10.2458/azu_jmmss_v1i2_davis

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Ophthalmoplegia

10.1093/med/9780190661304.003.0004 ◽

2018 ◽

Author(s):

Aziz Shaibani

Keyword(s):

Muscular Dystrophy ◽

Myasthenia Gravis ◽

Eye Movement ◽

Congenital Myasthenic Syndrome ◽

Oculopharyngeal Muscular Dystrophy ◽

Laboratory Methods ◽

Different Types ◽

Myasthenic Syndrome ◽

The Brain

Ophthalmoplegia is usually chronic, and therefore diplopia is not a feature. There is enough time for the brain to suppress one image. It is amazing how much of impairment of eye movement has to occur before the patient becomes concerned or considers it as abnormal. Neglected myasthenia gravis (MG) may be confused with mitochondrial ophthalmoplegia or oculopharyngeal muscular dystrophy (OPMD) or even congenital myasthenic syndrome (CMS). Central causes of ophthalmoplegia should be ruled out first by performing doll’s eye movement. A number of cases of different types of ophthalmoplegia are presented, along with clinical and laboratory methods to differentiate them.

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PMS23 COST OF ILLNESS IN AMYOTROPHIC LATERAL SCLEROSIS, MYASTHENIA GRAVIS AND FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

Value in Health ◽

10.1016/s1098-3015(10)75163-9 ◽

2009 ◽

Vol 12 (7) ◽

pp. A437

Author(s):

Y Winter ◽

K Schepelmann ◽

A Spottke ◽

D Claus ◽

A Grothe ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Muscular Dystrophy ◽

Myasthenia Gravis ◽

Cost Of Illness ◽

Facioscapulohumeral Muscular Dystrophy ◽

Lateral Sclerosis

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Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy

Environmental Health and Preventive Medicine ◽

10.1007/s12199-014-0405-7 ◽

2014 ◽

Vol 19 (6) ◽

pp. 452-458 ◽

Cited By ~ 44

Author(s):

Yasunari Matsuzaka ◽

Soichiro Kishi ◽

Yoshitsugu Aoki ◽

Hirofumi Komaki ◽

Yasushi Oya ◽

...

Keyword(s):

Muscular Dystrophy ◽

Becker Muscular Dystrophy ◽

Facioscapulohumeral Muscular Dystrophy ◽

Serum Biomarkers ◽

Limb Girdle Muscular Dystrophy

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Neuromuscular Disorders

10.1093/med/9780190259419.003.0021 ◽

2017 ◽

Author(s):

E. Lee Murray ◽

Veda V. Vedanarayanan

Keyword(s):

Peripheral Nerves ◽

Chronic Conditions ◽

Neuromuscular Disorders ◽

Periodic Paralysis ◽

Muscular Weakness ◽

Myasthenic Syndrome ◽

Critical Illness Neuromyopathy ◽

Tick Paralysis ◽

Reason For Admission ◽

Lateral Sclerosis

The hospital neurologist may encounter neuromuscular disorders as known chronic conditions that are exacerbated by a hospital stay, be the principal reason for admission, or develop during a prolonged hospitalization. This chapter details the presentation, diagnosis, and management of conditions affecting the peripheral nerves and neuromuscular junction, such as myasthenia gravis, Lambert-Eaton (myasthenic) syndrome, botulism, and tick paralysis; as well as muscular weakness from various causes such as rhabdomyolysis, critical illness neuromyopathy, inflammatory myopathies, muscular dystrophies, periodic paralysis, and metabolic and endocrine myopathies. Also discussed are motoneuron degeneration, including amyotrophic lateral sclerosis and progressive muscle atrophy, and neuromuscular respiratory failure.

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