The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. [ncbi.nlm.nih.gov]

• Difficulty Walking

  Walking and Ataxia 415 Case 66 A Man with Progressive Neuropathy and Congestive Heart Failure 422 Case 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent [books.google.com]

  Flexion contracture High palate Hearing impairment Sleep apnea Nemaline bodies Muscle cramps Difficulty walking Increased connective tissue Apnea Hyperlordosis Congenital onset Dyspnea Neonatal hypotonia Short stature Gait disturbance Hip contracture [mendelian.co]

  His symptoms initially began with difficulty walking down stairs because his left knee would ‘‘give out.’’ [slideplayer.com]

• Nasal Voice

  Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. [rarediseases.info.nih.gov]

  Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking. [scinapse.io]

  […] patterns of weakness Eyes Ptosis (80%): Often asymmetric Ophthalmoplegia: Early in disease course Weakness Masseter Facial Weakness may be severe Wasting: Orbicularis oris, Malar & Zygomatic muscles Bulbar Dysphagia: Oropharyngeal Dysarthria: Hoarse & Nasal [neuromuscular.wustl.edu]

  Dysphagia and a hoarse or nasal voice occurred in all patients after a disease duration of up to 2 years. All patients exhibited limb weakness, with the distal muscles predominantly affected. [journals.plos.org]

  Palatal, pharyngeal, and tongue involvement produce a dysarthric speech, nasal voice, and swallowing problems. Some patients have diaphragm and intercostal muscle weakness, resulting in respiratory insufficiency. [clinicalgate.com]

• Prognathism

  The physical appearance is striking because of the long, narrow facies, high-arched palate, and open-mouthed appearance due to a prognathous jaw. [clinicalgate.com]

• Proximal Muscle Weakness

  Woman with Muscle Pains and Dark Urine 526 Case 84 A Woman with Progressive Proximal Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman [books.google.com]

  weakness Ophthalmoparesis Elevated serum creatine phosphokinase Dysarthria Rare Symptoms - Less than 30% cases Increased serum lactate Slow progression Proximal muscle weakness Mitochondrial myopathy Gowers sign Myalgia Multiple mitochondrial DNA deletions [mendelian.co]

  She also has mild dysphagia and proximal muscle weakness. [webeye.ophth.uiowa.edu]

• Areflexia

  67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia [books.google.com]

  […] distal and mildly asymmetric, similar to s-IBM, but more often distally accentuated and lacking in the characteristic quadriceps/deep finger flexor emphasis of s-IBM; almost all patients have sensory signs and symptoms; examination shows diffuse hypo/areflexia [emedicine.staging.medscape.com]

Treatment Treatment Options: Supportive treatment such as physical and respiratory therapies may be helpful but no specific treatment is available for the muscle disease. [disorders.eyes.arizona.edu]

IVIG + Prednisone Group Placebo + Prednisone Group Pre-treatment Post-treatment Pre-treatment Post-treatment % of necrotic fibers .0020 .0004 .0030 .0030 # CD2 + cells per myofiber ~ 0.7 ~ 0.3 ~ 0.9 ~ 0.5 Another important treatment study looked at the [s-ibm.org]

Treatment of the neuromuscular diseases has also un dergone dramatic change based on new discoveries in the fields of immunology and pharmacology. [books.google.com]

1 Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. ( 26039504 ) Zhao J....Wang Z. 2015 2 Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy. ( 23602269 [malacards.org]

Diagnosis and Prognosis: Insufficient numbers of individuals have been reported to describe an accurate prognosis. Ophthalmologists and neurologists may collaborate on the diagnosis but clearly the major handicaps arise from muscle weakness. [disorders.eyes.arizona.edu]

The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate. [nature.com]

Hoarse & Nasal voice Tongue weakness Limbs Legs > Arms Distal: Anterior tibial; Finger extensors Onset: ~5 years after disease onset Limb strength normal (20%) Progression: To proximal muscles Respiratory Common May develop while ambulant Postural drop Prognosis [neuromuscular.wustl.edu]

Prognosis of amyotrophic lateral sclerosis with respiratory onset. J Neurol Neurosurg Psychiatry. 2007;78(6):629–631. 10. Brooks BR, Miller RG, Swash M, Munsat TL. [dovepress.com]

[…] body myopathies (h-IBM) encompass a group of disorders sharing the common pathological finding of vacuoles and filamentous inclusions. [1] They collectively demonstrate a wide variation in clinical expression, age of onset, associated diseases, and prognosis [emedicine.medscape.com]

The etiology of sIBM is still unknown, however genetic factors, aging, life styles, environmental factors may be involved. sIBM is generally refractory to current therapy, such as steroid or immunosuppressants. [semanticscholar.org]

As newly discovered mutations continue to be found, more roads to etiology and pathogenesis continue to emerge. [medlink.com]

Etiologic factors in cricopharyngeal dysphagia I. Central nervous system disease. Cerebrovascular accident ; bulbar polio ; cerebral palsy ; multiple sclerosis ; amyotrophic lateral sclerosis ; brain stem tumor... II. Peripheral nerve disease. [hon.ch]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies. [reviewofophthalmology.com]

CONGENITAL & HEREDITARY OPHTHALMOPLEGIAS Oculopharyngeal Muscular Dystrophy 5 ● Polyadenylate-binding protein, Nuclear, 1 (PABPN1; PABN1; PABP2) ; Chromosome 14q11.2; Dominant or Recessive ● Second locus in non-French-Canadian (Italian & Norman) families Epidemiology [neuromuscular.wustl.edu]

Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel. Neuromuscul Disord 7 Suppl 1, S38-40. Brais, B. (2009). Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep 9, 76-82. [webeye.ophth.uiowa.edu]

Crowcroft Epidemiology and Infection 2010; 138(6): 783-800. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. D.Bäumer, D.A.Hilton, S.Paine, M.Turner, J.Lowe, K.Talbot, O.Ansorge Neurology 2010; 75: 611-618. [plymouthhospitals.nhs.uk]

Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. Neurology. 2000 Nov 14. 55(9):1385-7. [Medline]. Phillips BA, Zilko PJ, Mastaglia FL. Prevalence of sporadic inclusion body myositis in Western Australia. [emedicine.medscape.com]

Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. Neurology. 2000;55:1385-1387 3 Phillips BA, Zilko PJ, Mastaglia FL. Prevalence of sporadic inclusion body myositis in Western Australia. [s-ibm.org]

Emphasis has been placed on the diagnosis and management of these disorders rather than on their pathophysiology. [books.google.com]

Recent advances in the identification of various proteins involved in these diseases are mentioned because they have provided better insight into their underlying pathophysiological mechanisms. [journals.lww.com]

They are a pathophysiologically diverse group of degenerative myopathies with the common feature of floppy para- or quadriparesis with proximal pronouncement and muscular atrophy. [journal.frontiersin.org]

MELAS and L-arginine therapy: pathophysiology of stroke-like episodes Ann N Y Acad Sci 2010; 1201: 104-. [69] Iizuka T, Sakai F, Endo M, Suzuki N. Response to sumatriptan in headache of MELAS syndrome Neurology 2003; 61: 577-8. [70] Santa KM. [benthamopen.com]

Development and Management OPDM offspring of prediabetic mothers OPDM Office Productivity/Design Media OPDM Other Pipelines Delivery Must-Flow Service OPDM Optimal Procurement Deployment Modeling OPDM optical power detector module OPDM Child Overweight Prevention [acronyms.thefreedictionary.com]

Office Productivity/Design Media OPDM offspring of prediabetic mothers OPDM Other Pipelines Delivery Must-Flow Service OPDM optical power detector module OPDM Optimal Procurement Deployment Modeling OPDM OnePoint Device Manager OPDM Child Overweight Prevention [acronymfinder.com]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.de]

[…] for nocturnal hypoventilation Speech therapy for dysphagia / dysarthria Testosterone / thyroid replacement as necessary Control of co-existent diabetes Small, low-fat meals for gastrointestinal symptoms Cataract surgery, eyelid taping if necessary to prevent [evidencereviewed.com]

Here, we show that the antiprion drugs 6-aminophenanthridine (6AP) and guanabenz acetate (GA), which prevent formation of... more To analyze and compare three quantitative MRI methods to determine the degree of muscle involvement in oculopharyngeal muscular [scinapse.io]