PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

BW van Paassen, AJ van der Kooi… - Orphanet journal of rare …, 2014 - Springer
Abstract PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-
Marie-Tooth disease type 1A (CMT1A),(2) PMP22 deletions, leading to Hereditary …

[HTML][HTML] Myotonic dystrophy type 1

TD Bird - 2021 - europepmc.org
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth
muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical …

The assessment of fatigue: Psychometric qualities and norms for the Checklist individual strength

M Worm-Smeitink, M Gielissen, L Bloot… - Journal of …, 2017 - Elsevier
Abstract Objective The Checklist Individual Strength (CIS) measures four dimensions of
fatigue: Fatigue severity, concentration problems, reduced motivation and activity. On the …

Is fatigue a disease-specific or generic symptom in chronic medical conditions?

J Menting, CJ Tack, G Bleijenberg, R Donders… - Health …, 2018 - psycnet.apa.org
Objective: Severe fatigue is highly prevalent in various chronic diseases. Disease-specific
fatigue models have been developed, but it is possible that fatigue-related factors in these …

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

M Minnerop, B Weber, JC Schoene-Bake, S Roeske… - Brain, 2011 - academic.oup.com
Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential
brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy …

Cerebral involvement in myotonic dystrophies

G Meola, V Sansone - Muscle & Nerve: Official Journal of the …, 2007 - Wiley Online Library
Abstract Myotonic dystrophy types 1 (DM1) and 2 (DM2) are similar yet distinct autosomal‐
dominant disorders characterized by muscle weakness, myotonia, cataracts, and multiple …

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind …

K Okkersen, C Jimenez-Moreno, S Wenninger… - The Lancet …, 2018 - thelancet.com
Background Myotonic dystrophy type 1 is the most common form of muscular dystrophy in
adults and leads to severe fatigue, substantial physical functional impairment, and restricted …

Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: an RCT

N Voet, G Bleijenberg, J Hendriks, I de Groot… - Neurology, 2014 - AAN Enterprises
Objective: To investigate the effect of aerobic exercise training (AET) and cognitive-
behavioral therapy (CBT) on chronic fatigue in patients with facioscapulohumeral muscular …

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos syndrome

NC Voermans, H Knoop, N van de Kamp… - Seminars in arthritis and …, 2010 - Elsevier
OBJECTIVES: Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous
group of inherited connective tissue disorders characterized by joint hypermobility, skin …

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy

K Mul, S Lassche, NC Voermans, GW Padberg… - Practical …, 2016 - pn.bmj.com
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited and progressive muscle
disorder. Although its name suggests otherwise, it comprises weakness of the facial …