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Article: Diagnosis and management of motor neurone disease.

Orrell, Richard W

2016 Volume 260, Issue 1796, Page(s) 17–21

Abstract: Motor neurone disease is a rapidly progressive and fatal neurodegenerative condition which causes progressive weakness, with normal sensation. It can occur at any age but is more frequent with increasing age. Key clinical presentations include bulbar ( ... ...

Abstract	Motor neurone disease is a rapidly progressive and fatal neurodegenerative condition which causes progressive weakness, with normal sensation. It can occur at any age but is more frequent with increasing age. Key clinical presentations include bulbar (slurred or difficult speech, problems swallowing, tongue fasciculation), limb (typically in one limb with weakness and muscle wasting), respiratory (breathlessness, chest muscle fasciculation) and cognitive features (behavioural change, emotional lability, features of frontotemporal dementia). Although survival is typically three to five years from symptom onset, there is significant individual variation. Rarely, survival may be 20 years or longer. Favourable features include a limb rather than a bulbar presentation, preserved weight and respiratory function, younger age of onset and longer time from fist symptom to diagnosis. The patient should be linked to a multidisciplinary team able to provide support from the start with a designated individual as the point of contact, with regular, coordinated assessments, as the patient's needs change and their condition progresses. Gastrostomy is an important supportive intervention which maximizes nutrition, and minimizes aspiration and chest infection. Adequate nutrition and hydration is key to maximizing health and survival. It is possible for a patient to control a computer and speech by eye. movement alone. An important consideration is voice banking where the patient may store their voice before there is difficulty with speech so that it can be used at a later stage if they need a communication aid. Impaired cough and retention of respiratory secretions is frequent in the later stages, and may be managed with physiotherapy. The patient should be referred for expert respiratory assessment if needed.
Language	English
Publishing date	2016-09
Publishing country	England
Document type	Journal Article
ZDB-ID	124095-x
ISSN	0032-6518
ISSN	0032-6518
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Article: Diagnosing and managing muscular dystrophy.

Orrell, Richard W

The Practitioner

2012 Volume 256, Issue 1754, Page(s) 21–4, 2–3

Abstract: Muscular dystrophy refers to a range of muscle diseases caused by defects in muscle proteins, leading to death of the muscle cells, with loss of muscle tissue, and weakness. The development of clinical symptoms is usually gradual, and the earliest ... ...

Abstract	Muscular dystrophy refers to a range of muscle diseases caused by defects in muscle proteins, leading to death of the muscle cells, with loss of muscle tissue, and weakness. The development of clinical symptoms is usually gradual, and the earliest features may be difficult to identify and determine. With established disease the presence of muscle weakness and wasting is clear. In children, the presentation may be delayed walking, or poor performance in sporting activity. In children and adults presenting symptoms may include: difficulty raising from a squat; difficulty raising from a chair; difficulty lifting the arms above the head; poor balance; drooping eyelids; and joint contractures. In the presence of slowly progressive muscle weakness and wasting, an elevated serum creatine kinase would be a strong pointer to a muscle disease. Retention of limb reflexes would favour a myopathy over a neuropathy. The major differential diagnosis is an inflammatory myopathy, such as polymyositis. The muscular dystrophies have a genetic basis. There may be important genetic issues to discuss with the family, including the possibility of prenatal diagnosis. In Duchenne muscular dystrophy the inheritance is X-linked, with typically only boys affected. Many limb girdle muscular dystrophies are autosomal recessive, affecting only one generation of a family and facioscapulohumeral dystrophy is autosomal dominant.
MeSH term(s)	Biopsy ; Diagnosis, Differential ; Disease Management ; Genetic Testing/methods ; Humans ; Muscular Dystrophies/diagnosis ; Muscular Dystrophies/genetics ; Muscular Dystrophies/therapy ; Physical Examination/methods
Language	English
Publishing date	2012-09
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	124095-x
ISSN	0032-6518
ISSN	0032-6518
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Article ; Online: Dyspnea (breathlessness) in amyotrophic lateral sclerosis/motor neuron disease: prevalence, progression, severity, and correlates.

Young, Carolyn A / Chaouch, Amina / Mcdermott, Christopher J / Al-Chalabi, Ammar / Chhetri, Suresh K / Talbot, Kevin / Harrower, Timothy / Orrell, Richard W / Annadale, Joe / Hanemann, C Oliver / Scalfari, Antonio / Tennant, Alan / Mills, Roger

Amyotrophic lateral sclerosis & frontotemporal degeneration

2024 , Page(s) 1–11

Abstract: ... ...

Abstract	Objective
Language	English
Publishing date	2024-03-11
Publishing country	England
Document type	Journal Article
ZDB-ID	2705049-X
ISSN	2167-9223 ; 2167-8421
ISSN (online)	2167-9223
ISSN	2167-8421
DOI	10.1080/21678421.2024.2322545
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Article: GPs have key role in managing motor neurone disease.

Orrell, Richard W

The Practitioner

2011 Volume 255, Issue 1743, Page(s) 19–22, 2

Abstract: Motor neurone disease (MND) is a rapidly progressive neurodegenerative condition. It affects people of all ages, but is more common with increasing age (especially over 50 years) and men are affected twice as often as women. The causes remain unknown, ... ...

Abstract	Motor neurone disease (MND) is a rapidly progressive neurodegenerative condition. It affects people of all ages, but is more common with increasing age (especially over 50 years) and men are affected twice as often as women. The causes remain unknown, although around 5% of cases have a genetic basis. Survival is usually only three to five years from diagnosis. MND affects both upper and lower motor neurones, with variable contributions. The nerve involvement in MND usually has a focal onset, is asymmetrical, but tends to spread to adjacent regions of the body. If the affected region is in the legs, a common presenting feature is tripping, falls or foot drop. If it is in the arms there may be difficulty with fine tasks such as fastening buttons, or raising an arm, and if the cranial nerves are affected there may be slurring of speech, or difficulty swallowing. Key to the diagnosis is evidence of progression, and this may lead to some delay in considering and also confirming the diagnosis. When examining the patient, evidence of more widespread neuromuscular involvement should be looked for. In a patient with foot drop, and fasciculation of the tongue, MND would be a likely diagnosis. Upper motor neurone involvement may be readily determined by examining the reflexes. Brisk reflexes, in the arms, legs or jaw, in the context of features of lower motor neurone denervation are highly suggestive of MND. Suspicion of MND should lead to referral for a neurology opinion. The most useful investigation is likely to be EMG with nerve conduction studies, and probably MRI scan of relevant areas. Blood tests are arranged to screen for any other causative condition. Riluzole is a disease modifying drug licensed to extend the life of patients with MND. There is no treatment that will reverse, or halt, progression of the disease.
MeSH term(s)	Diagnosis, Differential ; General Practice ; Humans ; Motor Neuron Disease/diagnosis ; Motor Neuron Disease/physiopathology ; Motor Neuron Disease/therapy ; Physical Examination
Language	English
Publishing date	2011-09
Publishing country	England
Document type	Journal Article
ZDB-ID	124095-x
ISSN	0032-6518
ISSN	0032-6518
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Article: Facioscapulohumeral dystrophy and scapuloperoneal syndromes.

Orrell, Richard W

Handbook of clinical neurology

2011 Volume 101, Page(s) 167–180

Abstract: Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy. It is named for its characteristic involvement of the muscles of the face and upper arm. It is present worldwide, with a prevalence of around 4 per 100000 and an incidence ... ...

Abstract	Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy. It is named for its characteristic involvement of the muscles of the face and upper arm. It is present worldwide, with a prevalence of around 4 per 100000 and an incidence of about 1 in 20000. Overall lifespan is not affected significantly. The scapuloperoneal syndrome is a rarer presentation that may cause some confusion. FSHD is an autosomal dominant condition. The molecular genetics of FSHD are complex, with current understanding focusing on epigenetic effects related to contraction-dependent (FSHD1) and contraction-independent (FSHD2) effects of a hypomethylated repeat sequence (D4Z4), in the presence of a specific 4qA161 phenotype. Molecular genetic diagnosis is available based on these findings, but with some complexities which may lead to false-negative results on routine laboratory investigation. No medication has been demonstrated to alter the clinical course of the disease significantly. A range of supportive measures may be applied. This chapter reviews the epidemiology, pathogenesis, genetics, clinical features, investigation, prognosis, and management of patients with FSHD and the scapuloperoneal syndrome.
MeSH term(s)	Humans ; Muscular Dystrophy, Emery-Dreifuss ; Muscular Dystrophy, Facioscapulohumeral
Language	English
Publishing date	2011
Publishing country	Netherlands
Document type	Journal Article ; Review
ISSN	0072-9752
ISSN	0072-9752
DOI	10.1016/B978-0-08-045031-5.00013-X
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Pathogenesis of amyotrophic lateral sclerosis.

Morgan, Sarah / Orrell, Richard W

British medical bulletin

2016 Volume 119, Issue 1, Page(s) 87–98

Abstract: Introduction: Amyotrophic lateral sclerosis (ALS) or motor neuron disease is a rapidly progressive neurodegenerative disorder. The primary involvement is of motor neurons in the brain, spinal cord and peripherally. There is secondary weakness of muscles ...

Abstract	Introduction: Amyotrophic lateral sclerosis (ALS) or motor neuron disease is a rapidly progressive neurodegenerative disorder. The primary involvement is of motor neurons in the brain, spinal cord and peripherally. There is secondary weakness of muscles and primary involvement of other brain regions, especially involving cognition. Sources of data: Peer-reviewed journal articles and reviews. PubMed.gov Areas of agreement: The pathogenesis of ALS remains largely unknown. There are a wide range of potential mechanisms related to neurodegeneration. An increasing number of genetic factors are recognized. Areas of controversy: There remains controversy, or lack of knowledge, in explaining how cellular events manifest as the complex human disease. There is controversy as to how well cellular and animal models of disease relate to the human disease. Growing points: Large-scale international collaborative genetic epidemiological studies are replacing local studies. Therapies related to pathogenesis remain elusive, with the greatest advances to date relating to provision of care (including multidisciplinary management) and supportive care (nutrition and respiratory support). Areas timely for developing research: The identification of C9orf72 hexanucleotide repeats as the most frequent genetic background to ALS, and the association with frontotemporal dementia, gives the potential of a genetic background against which to study other risk factors, triggers and pathogenic mechanisms, and to develop potential therapies.
MeSH term(s)	Age of Onset ; Amyotrophic Lateral Sclerosis/drug therapy ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Amyotrophic Lateral Sclerosis/physiopathology ; Anticonvulsants/therapeutic use ; C9orf72 Protein ; DNA-Binding Proteins ; Executive Function/drug effects ; Genome-Wide Association Study ; Humans ; Molecular Targeted Therapy/trends ; Mutation/genetics ; Proteins ; RNA-Binding Protein FUS ; Riluzole/therapeutic use ; Superoxide Dismutase-1
Chemical Substances	Anticonvulsants ; C9orf72 Protein ; C9orf72 protein, human ; DNA-Binding Proteins ; FUS protein, human ; Proteins ; RNA-Binding Protein FUS ; SOD1 protein, human ; TARDBP protein, human ; Riluzole (7LJ087RS6F) ; Superoxide Dismutase-1 (EC 1.15.1.1)
Language	English
Publishing date	2016-07-22
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	213294-1
ISSN	1471-8391 ; 0007-1420
ISSN (online)	1471-8391
ISSN	0007-1420
DOI	10.1093/bmb/ldw026
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Article ; Online: What is the clinical significance of SOD1 mutations in amyotrophic lateral sclerosis?

Orrell, Richard W

Journal of neurology, neurosurgery, and psychiatry

2010 Volume 81, Issue 5, Page(s) 473

MeSH term(s)	Amyotrophic Lateral Sclerosis/genetics ; Heterozygote ; Humans ; Mutation/genetics ; Mutation/physiology ; Superoxide Dismutase/genetics ; Superoxide Dismutase-1
Chemical Substances	SOD1 protein, human ; Superoxide Dismutase (EC 1.15.1.1) ; Superoxide Dismutase-1 (EC 1.15.1.1)
Language	English
Publishing date	2010-05
Publishing country	England
Document type	Editorial ; Comment
ZDB-ID	3087-9
ISSN	1468-330X ; 0022-3050
ISSN (online)	1468-330X
ISSN	0022-3050
DOI	10.1136/jnnp.2010.205575
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Article ; Online: Motor neuron disease: systematic reviews of treatment for ALS and SMA.

Orrell, Richard W

British medical bulletin

2010 Volume 93, Page(s) 145–159

Abstract: Introduction: There is no curative treatment for the common motor neuron diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy. Nevertheless, there is an increasing volume of published studies. This review assesses the current ... ...

Abstract	Introduction: There is no curative treatment for the common motor neuron diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy. Nevertheless, there is an increasing volume of published studies. This review assesses the current evidence for treatment of these conditions. Sources of data: Primarily, the systematic reviews of the Cochrane Collaboration, with additional reference to other systematic reviews and online sites. Areas of agreement: Riluzole remains the only medication with demonstrated efficacy and regulatory approval for the treatment of ALS. AREAS OF CONTROVERSY, GROWING POINTS, AND AREAS TIMELY FOR DEVELOPING RESEARCH: The design of clinical trials and the publication of unsatisfactory studies, in both human and animal models, continue to cause confusion in advising on patient management. Improvements in trial design, critical assessment of studies for publication and avoidance of bias towards publication of positive results are needed. A better understanding of pathogenesis should lead to more potent interventions.
MeSH term(s)	Amyotrophic Lateral Sclerosis/therapy ; Databases as Topic ; Humans ; Motor Neuron Disease/therapy ; Muscular Atrophy, Spinal/therapy ; Neuroprotective Agents/therapeutic use ; Randomized Controlled Trials as Topic ; Riluzole/therapeutic use
Chemical Substances	Neuroprotective Agents ; Riluzole (7LJ087RS6F)
Language	English
Publishing date	2010
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	213294-1
ISSN	1471-8391 ; 0007-1420
ISSN (online)	1471-8391
ISSN	0007-1420
DOI	10.1093/bmb/ldp049
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Article ; Online: Opinion: more mouse models and more translation needed for ALS.

Fisher, Elizabeth M C / Greensmith, Linda / Malaspina, Andrea / Fratta, Pietro / Hanna, Michael G / Schiavo, Giampietro / Isaacs, Adrian M / Orrell, Richard W / Cunningham, Thomas J / Arozena, Abraham Acevedo

Molecular neurodegeneration

2023 Volume 18, Issue 1, Page(s) 30

Abstract: Amyotrophic lateral sclerosis is a complex disorder most of which is 'sporadic' of unknown origin but approximately 10% is familial, arising from single mutations in any of more than 30 genes. Thus, there are more than 30 familial ALS subtypes, with ... ...

Abstract	Amyotrophic lateral sclerosis is a complex disorder most of which is 'sporadic' of unknown origin but approximately 10% is familial, arising from single mutations in any of more than 30 genes. Thus, there are more than 30 familial ALS subtypes, with different, often unknown, molecular pathologies leading to a complex constellation of clinical phenotypes. We have mouse models for many genetic forms of the disorder, but these do not, on their own, necessarily show us the key pathological pathways at work in human patients. To date, we have no models for the 90% of ALS that is 'sporadic'. Potential therapies have been developed mainly using a limited set of mouse models, and through lack of alternatives, in the past these have been tested on patients regardless of aetiology. Cancer researchers have undertaken therapy development with similar challenges; they have responded by producing complex mouse models that have transformed understanding of pathological processes, and they have implemented patient stratification in multi-centre trials, leading to the effective translation of basic research findings to the clinic. ALS researchers have successfully adopted this combined approach, and now to increase our understanding of key disease pathologies, and our rate of progress for moving from mouse models to mechanism to ALS therapies we need more, innovative, complex mouse models to address specific questions.
MeSH term(s)	Mice ; Animals ; Humans ; Amyotrophic Lateral Sclerosis/metabolism ; Disease Models, Animal ; Mutation ; Phenotype
Language	English
Publishing date	2023-05-04
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2244557-2
ISSN	1750-1326 ; 1750-1326
ISSN (online)	1750-1326
ISSN	1750-1326
DOI	10.1186/s13024-023-00619-2
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Article: Endocrine myopathies.

Orrell, Richard W

Handbook of clinical neurology

2007 Volume 86, Page(s) 343–355

Language	English
Publishing date	2007
Publishing country	Netherlands
Document type	Journal Article
ISSN	0072-9752
ISSN	0072-9752
DOI	10.1016/S0072-9752(07)86017-9
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