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Weakness, proximal muscle [keywords]
- Earthquake generated proximal tibial nerve compression treated by surgery. [JOURNAL ARTICLE]
- Int Orthop 2013 Jun 18.
PURPOSE:This article reports on nine cases of proximal tibial nerve compression by the soleal tendinous arch caused by unsuitable treatment of acute compartment syndrome (ACS). Also, we report the clinical results of neurolysis and analyse the cause of this special type of neurological compression.
METHODS:There were nine extremities in nine patients included in the study. All patients were among the victims of the Wenchuan earthquake in 2008. All patients had a previous lower extremity ACS. Pain level, numbness in the sole, muscle strength of the flexor hallucis longus and Tinel's sign were evaluated pre- and post-operatively. Each proximal tibial nerve compression was subjected to neurolysis with division of the soleal tendinous arch.
RESULTS:At a mean follow-up of 22 months, eight patients (87 %) with weakness of the flexor hallucis longus showed improvement in flexor strength and seven patients (78 %) exhibited improved sensory function in the sole. All patients experienced pain relief. Subjective pain was reduced from an average score of 2.7 to 0.7 based on a visual analogue scale. Physical examination for Tinel's sign revealed all patients experienced relief of radiating pain, but two patients still retained a positive Tinel's sign (mild) over the soleal tendinous arch. In summary, four patients were highly satisfied, four were satisfied and one was neither satisfied nor dissatisfied with functional recovery after neurolysis.
CONCLUSIONS:Unsuitable treatment of lower extremity ACS can lead to tibial nerve compression beneath the soleal tendinous arch. Neurolysis may improve pain and sensory and motor function.
- Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency. [JOURNAL ARTICLE]
- Neuromuscul Disord 2013 Jun 13.
We report two sisters, aged 11 and 6years, with AGAT deficiency syndrome (OMIM 612718) which is the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed an important language delay, a progressive proximal muscular weakness in the lower limbs with Gowers sign and myopathic electromyography. Investigations revealed undetectable guanidinoacetate and low level of creatine in plasma and urine, characteristic findings of AGAT deficiency syndrome. Brain magnetic resonance spectroscopy showed a markedly reduced level of creatine. Guanidinoacetate methyltransferase (GATM) gene sequencing revealed a homozygous missense mutation in exon 4:c.608A>C, (p.Tyr203Ser). Thirteen months after beginning the treatment with oral creatine monohydrate 200mg/kg/day, then 400mg/kg/day, there was a dramatic improvement in muscle strength with Gowers sign disappearance in both patients, and a mild improvement in language and cognitive functions. AGAT deficiency syndrome should be considered in all patients with language retardation and cognitive impairment associated to a myopathy of unknown etiology such that early diagnosis must lead to creatine supplementation to cure the myopathy and improve language and cognitive function.
- Compound heterozygous mutations of the TNXB gene cause primary myopathy. [JOURNAL ARTICLE]
- Neuromuscul Disord 2013 Jun 11.
Complete deficiency of the extracellular matrix glycoprotein tenascin-X (TNX) leads to recessive forms of Ehlers-Danlos syndrome, clinically characterized by hyperextensible skin, easy bruising and joint hypermobility. Clinical and pathological studies, immunoassay, and molecular analyses were combined to study a patient suffering from progressive muscle weakness. Clinical features included axial and proximal limb muscle weakness, subclinical heart involvement, minimal skin hyperextensibility, no joint abnormalities, and a history of easy bruising. Skeletal muscle biopsy disclosed striking muscle consistency and the abnormal presence of myotendinous junctions in the muscle belly. TNX immunostaining was markedly reduced in muscle and skin, and serum TNX levels were undetectable. Compound heterozygous mutations were identified: a previously reported 30kb deletion and a non-synonymous novel missense mutation in the TNXB gene. This study identifies a TNX-deficient patient presenting with a primary muscle disorder, thus expanding the phenotypic spectrum of TNX-related abnormalities. Biopsy findings provide evidence that TNX deficiency leads to muscle softness and to mislocalization of myotendinous junctions.
- Rachitic chest in a young adult male: Fanconi's syndrome--idiopathic type. [Journal Article]
- BMJ Case Rep 2013.
Presented in this paper is a case of a 36-year-old Filipino man presenting with a chronic history of intermittent proximal muscle weakness and paralysis which was associated with failure to thrive, severe bony deformities, muscle wasting and multiple electrolyte abnormalities (hypokalaemia, hypocalcaemia, hypomagnesaemia). Severe skeletal deformities led to a pathological fracture of the femoral bone and restrictive chest wall expansion during inspiration necessitating admission and consult at our institution. Correction of multiple electrolyte abnormalities was the mainstay of treatment for this case and resulted into full reversal of paralytic symptoms but skeletal and osseous abnormalities persisted. This case highlights the insidious course and subtle signs of Fanconi's syndrome leading to disfiguring skeletal deformities and abnormalities if not diagnosed early. Early suspicion and eventual diagnosis might be the key for these patients to have normal productive life devoid of crippling complications.
- [Favourable outcome after treatment with rituximab in a case of seronegative non-paraneoplastic Lambert-Eaton myasthenic syndrome.] [JOURNAL ARTICLE]
- Rev Med Interne 2013 Jun 4.
INTRODUCTION:Lambert-Eaton myasthenic syndrome is a rare and autoimmune presynaptic disorder of the neuromuscular junction, due in 85% of cases to autoantibodies directed against voltage-gated calcium channels. It is a paraneoplastic disorder in 50 to 60% of cases. Diagnosis involves a proximal muscle weakness and areflexia, associated with a significant increment after post-exercise stimulation in electrophysiological study. Symptomatic treatment is based on 3,4-diaminopyridine. No etiological treatment has proven its efficacy in both paraneoplastic and non-paraneoplastic Lambert-Eaton myasthenic syndrome.
CASE REPORT:We report a 41-year-old man who presented with a seronegative non-paraneoplastic Lambert-Eaton myasthenic syndrome in whom conventional immunosuppressive treatments (corticosteroids, azathioprine) failed, and who eventually improved after treatment with rituximab.
CONCLUSION:Rituximab was an effective and well-tolerated treatment in this case of seronegative non-paraneoplastic Lambert-Eaton myasthenic syndrome. Its indication should be discussed when conventional immunosuppressive therapy fails in both seropositive and seronegative patients.
- Vitamin D deficiency in myotonic dystrophy type 1. [JOURNAL ARTICLE]
- J Neurol 2013 Jun 11.
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder affecting, among others, the endocrine system, with derangement of steroid hormones functions. Vitamin D is a steroid recognized for its role in calcium homeostasis. In addition, vitamin D influences muscle metabolism by genomic and non-genomic actions, including stimulation of the insulin-like-growth-factor 1 (IGF1), a major regulator of muscle trophism. To verify the presence of vitamin D deficit in DM1 and its possible consequences, serum 25-hydroxyvitamin D (25(OH)D), calcium, parathormone (PTH), and IGF1 levels were measured in 32 DM1 patients and in 32 age-matched controls. Bone mineral density (BMD) and proximal muscle strength were also measured by DXA and a handheld dynamometer, respectively. In DM1 patients, 25(OH)D levels were reduced compared to controls, and a significant decrease of IGF1 was also found. 25(OH)D levels inversely correlated with CTG expansion size, while IGF1 levels and muscle strength directly correlated with levels of 25(OH)D lower than 20 and 10 ng/ml, respectively. A significantly higher percentage of DM1 patients presented hyperparathyroidism as compared to controls. Calcium levels and BMD were comparable between the two groups. Oral administration of cholecalciferol in 11 DM1 patients with severe vitamin D deficiency induced a normal increase of circulating 25(OH)D, ruling out defects in intestinal absorption or hepatic hydroxylation. DM1 patients show a reduction of circulating 25(OH)D, which correlates with genotype and may influence IGF1 levels and proximal muscle strength. Oral supplementation with vitamin D should be considered in DM1 and might mitigate muscle weakness.
- Teaching Video NeuroImages: Trapezius myotonia percussion sign in myotonic dystrophy type 2. [Journal Article]
- Neurology 2013 Jun 11; 80(24):e251.
Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder with proximal weakness, muscle pain, and early-onset cataracts.(1) In comparison with myotonic dystrophy type 1 (DM1), myotonia is less symptomatic, more proximal, and harder to detect during clinical and electrodiagnostic testing.(2) Here we document the presence of trapezius myotonia in patients with DM2 (video on the Neurology® Web site at www.neurology.org). In our experience, similar proximal percussion does not produce as marked a response in DM1 or nondystrophic myotonic disorders. This sign demonstrates a mechanism to test for proximal myotonia, and in at-risk patients, may be suggestive of an underlying diagnosis of DM2.
- [Inclusion body myositis--a rarely recognized disorder]. [English Abstract, Journal Article]
- Ideggyogy Sz 2013 Mar 30; 66(3-4):89-101.
Inclusion body myositis is the most common disabling inflammatory myopathy in the elderly. It is more frequent in men and after the age of 50 years. Inflammatory and degenerative features coexist. There is a T-cell mediated autoimmunity driven by in situ clonally expanded cytotoxic CD8-positive T-cells invading non-necrotic muscle fibres expressing MHC-I antigen. The hallmarks of degeneration are the deposition of protein aggregates and the formation of vesicles. The course of the disease is slow and the diagnosis is usually set after several years. The muscle weakness and wasting is assymetric, affecting predominantly distal muscles of the upper extremity and proximal muscles of the legs. The signs and clinical course can be characteristic, but the diagnosis is established by muscle biopsy. There is currently no evidence based effective treatment for sIBM. Prednisone, azathioprine, methotrexate, cyclosporine and IFN-beta failed. Oxandrolon did not improve symptoms. Treatment with intravenous immunglobuline (IVIG) induced in some patients a transient improvement of swallowing and of muscle strenght, but the overall study results were negative. A T-cell depleting monoclonal antibody (alemtuzumab), in a small uncontrolled study slowed down disease progression for a six-month period. Repeated muscle biopsies showed the reduction of T-cells in the muscle and the suppression of some degeneration associated molecules. An effective therapeutic mean should act on both aspects of the pathomechanism, on the inflammatory and the degenerative processes as well.
- Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. [JOURNAL ARTICLE]
- EMBO Mol Med 2013 Jun 5.
Spinal muscular atrophy (SMA) is a neurodegenerative disease that causes progressive muscle weakness, which primarily targets proximal muscles. About 95% of SMA cases are caused by the loss of both copies of the SMN1 gene. SMN2 is a nearly identical copy of SMN1, which expresses much less functional SMN protein. SMN2 is unable to fully compensate for the loss of SMN1 in motor neurons but does provide an excellent target for therapeutic intervention. Increased expression of functional full-length SMN protein from the endogenous SMN2 gene should lessen disease severity. We have developed and implemented a new high-throughput screening assay to identify small molecules that increase the expression of full-length SMN from a SMN2 reporter gene. Here, we characterize two novel compounds that increased SMN protein levels in both reporter cells and SMA fibroblasts and show that one increases lifespan, motor function, and SMN protein levels in a severe mouse model of SMA.
- Coexistence of peripheral myelin protein 22 and dystrophin mutations in a Chinese boy. [JOURNAL ARTICLE]
- Muscle Nerve 2013 Jun 6.
Introduction: We describe a 10-year-old Chinese boy with features of Charcot-Marie-Tooth disease (CMT) and Duchenne muscular dystrophy (DMD).