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Acta Myologica : Myopathies and... 2022Limb-girdle muscular dystrophy (LGMD) is a genetic muscle disorder causing weakness and wasting of the proximal limb musculature. When ambulation is lost, the attention...
Limb-girdle muscular dystrophy (LGMD) is a genetic muscle disorder causing weakness and wasting of the proximal limb musculature. When ambulation is lost, the attention must be shifted to the upper limb muscles' function. We studied the upper limb muscle strength and the corresponding function in 15 LGMDR1/LGMD2A and 13 LGMDR2/LGMD2B, through the Performance of Upper Limb scale and the MRC score of upper limbs. The proximal item K and the distal items N and R were lower in LGMD2B/R2. The mean MRC score of all the muscles involved linearly correlated (r2 = 0.922) for item K in LGMD2B/R2. The functional worsening paralleled the muscles weakness in LGMD2B/R2. By contrast, at proximal level the function of LGMD2A/R1 was preserved despite muscle weakness was present, presumably due to compensatory strategies. Sometimes the combination of parameters might be more informative than considering them separately. PUL scale and MRC might be interesting outcome measures in non-ambulant patients.
Topics: Humans; Muscular Dystrophies, Limb-Girdle; Muscle, Skeletal; Muscle Weakness; Upper Extremity
PubMed: 36793650
DOI: 10.36185/2532-1900-084 -
Clinical Neurology and Neurosurgery Aug 1994The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower... (Review)
Review
The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower extremity weakness. Families with evidence of both autosomal recessive and autosomal dominant modes of inheritance have been described. The recognition of other disorders presenting with weakness in a limb girdle distribution, such as the spinal muscular atrophies, dystrophinopathies, inflammatory and metabolic myopathies, casted doubt on the existence of LGMD as a separate entity. Recent linkage studies showing association between various forms of LGMD and loci on chromosome 15, 13 and 5 respectively, and the demonstration of 50K dystrophin associated glycoprotein deficiency in some cases of LGMD, strongly support the notion that limb girdle muscular dystrophy constitutes a separate group of phenotypically and genotypically distinct disorders. Further investigations are necessary to recognize the different subtypes of this disease and to identify the underlying mutations.
Topics: Adult; Arm; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 5; Creatine Kinase; Diagnosis, Differential; Dystrophin; Genotype; Glycoproteins; Humans; Leg; Male; Muscle, Skeletal; Muscular Dystrophies; Phenotype
PubMed: 7988088
DOI: 10.1016/0303-8467(94)90070-1 -
Brain : a Journal of Neurology Mar 1966
Topics: Adolescent; Adult; Cholinesterase Inhibitors; Creatine; Drug Tolerance; Electromyography; Extremities; Female; Humans; Male; Myasthenia Gravis; Urine
PubMed: 5910898
DOI: 10.1093/brain/89.1.121 -
Surgical Oncology Feb 1996Limb-sparing surgical procedures, such as the Tikhoff-Linberg resection, have gradually replaced the forequarter amputation as the surgical treatment of choice for soft... (Review)
Review
Limb-sparing surgical procedures, such as the Tikhoff-Linberg resection, have gradually replaced the forequarter amputation as the surgical treatment of choice for soft tissue tumours in and around the shoulder girdle. Although the Tikhoff-Linberg procedure provides limb salvage, it leaves a significant functional and cosmetic deficit in many patients. Scapular resections combined with radical excision of the soft tissues allows wide margins of resection, limited excision of uninvolved bone and excellent physical rehabilitation in treating soft tissue tumours of the shoulder girdle. The case of a young woman with Stage IVA malignant fibrous histiocytoma of the left shoulder girdle who underwent a radical scapulectomy with limb salvage and adequate surgical margins, while preserving a functional and cosmetically acceptable extremity, is reported. A historical review of scapular resections is also presented.
Topics: Adult; Amputation, Surgical; Arm; Axilla; Esthetics; Female; Histiocytoma, Benign Fibrous; Humans; Muscle, Skeletal; Neoplasm Staging; Physical Therapy Modalities; Rotator Cuff; Sarcoma; Scapula; Shoulder; Soft Tissue Neoplasms
PubMed: 8837304
DOI: 10.1016/s0960-7404(96)80021-1 -
Birth Defects Original Article Series Feb 1971
Topics: Adult; Biopsy, Needle; Diagnosis, Differential; Electromyography; Extremities; Humans; Male; Muscles; Muscular Dystrophies; Nervous System Diseases; Pedigree; Pelvis; Shoulder
PubMed: 5173124
DOI: No ID Found -
Muscle & Nerve Apr 2022Limb girdle muscular dystrophy type R9 (LGMDR9) is characterized by progressive weakness of the shoulder and hip girdles. Involvement of proximal extremity muscles is... (Observational Study)
Observational Study
INTRODUCTION/AIMS
Limb girdle muscular dystrophy type R9 (LGMDR9) is characterized by progressive weakness of the shoulder and hip girdles. Involvement of proximal extremity muscles is well-described whereas information about axial muscle involvement is lacking. It is important to recognize the involvement of axial muscles to understand functional challenges for the patients. The aim of this study was to investigate the involvement of axial and leg muscles in patients with LGMDR9.
METHODS
This observational, cross-sectional study investigated fat replacement of axial and leg muscles in 14 patients with LGMDR9 and 13 matched, healthy controls using quantitative MRI (Dixon technique). We investigated paraspinal muscles at three levels, psoas major at the lumbar level, and leg muscles in the thigh and calf. Trunk strength was assessed with stationary dynamometry and manual muscle tests.
RESULTS
Patients with LGMDR9 had significantly increased fat replacement of all investigated axial muscles compared with healthy controls (P < .05). Trunk extension and flexion strength were significantly reduced in patients. Extension strength correlated negatively with mean fat fraction of paraspinal muscles. Fat fractions of all investigated leg muscles were significantly increased versus controls, with the posterior thigh muscles being the most severely affected.
DISCUSSION
Patients with LGMDR9 have severe involvement of their axial muscles and correspondingly have reduced trunk extension and flexion strength. Our findings define the axial muscles as some of the most severely involved muscle groups in LGMDR9, which should be considered in the clinical management of the disorder and monitoring of disease progression.
Topics: Cross-Sectional Studies; Humans; Leg; Magnetic Resonance Imaging; Muscle, Skeletal; Muscles; Muscular Dystrophies, Limb-Girdle; Paraspinal Muscles
PubMed: 35020210
DOI: 10.1002/mus.27491 -
Disability and Rehabilitation 2015The aims of this review were (1) to provide insight into the natural course of upper-extremity (UE) impairments and UE activity limitations associated with... (Review)
Review
PURPOSE
The aims of this review were (1) to provide insight into the natural course of upper-extremity (UE) impairments and UE activity limitations associated with facioscapulohumeral dystrophy (FSHD) and limb-girdle muscular dystrophies (LGMD), and (2) to provide an overview of outcome measures used to evaluate UE function and activity in patients with FSHD and LGMD.
METHODS
Scientific literature databases (PubMed, MEDLINE, EMBASE, CINAHL and Cochrane) were searched for relevant publications.
INCLUSION CRITERIA
(1) studies that included persons with a diagnosis of FSHD or LGMD; and (2) studies that reported the natural course of the UE functions and/or activity with outcome measures at these levels.
RESULTS
247 publications were screened, of which 16 fulfilled the selection criteria. Most studies used manual muscle testing (MMT) to evaluate UE function and the Brooke Scale to evaluate UE mobility activities. The clinical picture of UE impairments and limitations of UE activities in FSHD and LGMD patients was highly variable. In general, FSHD and LGMD patients experience difficulty elevating their upper extremities and the execution of tasks takes considerably longer time.
CONCLUSIONS
The clinical course of UE impairments and activity limitations associated with FSHD and LGMD is difficult to predict due to its high variability. Although measures like MMT and the Brooke Scale are often used, there is a lack of more specific outcome measures to assess UE function and UE capacity and performance in daily life. Measures such as 3D motion analysis and electromyography (EMG) recordings are recommended to provide additional insight in UE function. Questionnaires like the Abilhand are recommended to assess UE capacity and accelerometry to assess UE performance in daily life.
IMPLICATIONS FOR REHABILITATION
There is a need for specific outcome measures on the level of UE activity. Both the level of capacity and performance should be assessed. Possible outcome measures include 3D motion analysis to assess UE function, questionnaires like the Abilhand to assess UE capacity and accelerometry to assess performance of UE activities in daily life.
Topics: Activities of Daily Living; Electromyography; Humans; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Facioscapulohumeral; Recovery of Function; Treatment Outcome; Upper Extremity
PubMed: 25098592
DOI: 10.3109/09638288.2014.948138 -
Neurology Jun 1992The existence of chronic "limb-girdle" form of myasthenia gravis (MG) has been questioned. We report here 12 such patients (10 women and two men) who constituted 3.8% of...
The existence of chronic "limb-girdle" form of myasthenia gravis (MG) has been questioned. We report here 12 such patients (10 women and two men) who constituted 3.8% of 314 MG patients in our study. The duration of disease ranged from 4 months to 7 years before the diagnosis. In almost all cases, the initial diagnosis was other than MG. None of the patients had any oculobulbar weakness. Acetylcholine receptor antibody was positive in five cases, although not all in the first assay. Repetitive nerve stimulation test was positive in all cases, although not necessarily the first time. Single-fiber EMG was positive in 11 cases. All patients responded to acetylcholinesterase inhibitors, and two thirds underwent immunotherapy. Diagnosis of limb-girdle MG requires a strong index of suspicion.
Topics: Adult; Aged; Chronic Disease; Electrodiagnosis; Electromyography; Extremities; Female; Humans; Male; Middle Aged; Myasthenia Gravis
PubMed: 1603341
DOI: 10.1212/wnl.42.6.1153 -
Lancet (London, England) Oct 1988
Topics: Adult; Humans; Leg; Male; Muscular Dystrophies; Pelvis; Remission, Spontaneous
PubMed: 2902368
DOI: 10.1016/s0140-6736(88)92523-8 -
Neuromuscular Disorders : NMD Dec 1996The LGMD2C linked to chromosome 13q and related to a 35 KDa dystrophin-associated glycoprotein deficiency, is very similar to Duchenne muscular dystrophy with an...
The LGMD2C linked to chromosome 13q and related to a 35 KDa dystrophin-associated glycoprotein deficiency, is very similar to Duchenne muscular dystrophy with an autosomal recessive inheritance. It is characterized by a variability of the age of onset, the severity of the evolution and the severity of myopathic changes at the muscle biopsy. This variability was also present in the expression of the alpha-sarcoglycan between the same sibships and between different families.
Topics: Age of Onset; Chromosomes, Human, Pair 13; Extremities; Genes, Recessive; Humans; Muscle, Skeletal; Muscular Dystrophies
PubMed: 9027861
DOI: 10.1016/s0960-8966(96)00395-1