Idiopathic adult-onset nemaline myopathy is a rare condition of unknown etiology that usually presents with proximal weakness. [ncbi.nlm.nih.gov]

NL Myopathic 2255/W Progressive distal arm weakness spreading to shoulder girdle and neckmuscles over 5 yr; E F.NL Myopathic 2661/W Months of progressive, proximal muscle weakness including neck weakness. [documents.tips]

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]

I could walk, but had difficulty walking up stairs. In November 2005 I went to the Mayo clinic. They did another biopsy and found the SLONM. They were very discouraging because they had never been able to successfully treat the condition. [nemaline.org]

The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. [icdlist.com]

The 79-year-old patient was unhappy with the outcome because of decreased neck mobility and difficulty walking after surgery. [thieme-connect.com]

Nemaline (rod) myopathy is a congenital muscle disease with a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. [ncbi.nlm.nih.gov]

Even if asymptomatic, they often show mild elevation of CK and subtle changes in the muscle biopsy. DMD patients have also cognitive impairment and behavioral abnormalities. Dystrophin is present in cortical neurons and Purkinje cells. [neuropathology-web.org]

[…] of the literature From Archives of Pathology & Laboratory Medicine, 11/1/97 by Gyure, Kymberly A * Nemaline (rod) myopathy is a congenital muscle disease with a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic [the-medical-dictionary.com]

Sugiyama A，Sawai S，Ito S，Mukai H，Beppu M，Yoshida T，Kuwabara S．Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation．J Neurol Sci 354: 131-132，2015． [neurology-kpum.com]

delay which hampers the walking and mobility of children Scoliosis or abnormal spinal curvature which tends to worsen during puberty of the patient Cardiac involvement has also been reported in some very rare cases where a patient develops dilated or [primehealthchannel.com]

CONGENITAL MUSCULAR DYSTROPHIES (CMDs) CMDs are a group of rare muscle diseases that present at birth or soon after with hypotonia, weakness, and developmental delay, similar to the congenital myopathies. Contractures develop early in some CMDs. [neuropathology-web.org]

The patient had no difficulty swal-lowing, shortness of breath, diplopia, ptosis, skinrash, fever, chills, numbness, or bowel or bladdersymptoms. [documents.tips]

The severe involvement of respiratory muscles often leads to life-threatening respiratory failure and weakness of the bulbar (swallowing) muscles increases the risk of aspiration pneumonia (in which liquid or food is inhaled into the lungs). [rarediseases.org]

The infants should also be given vaccinations for viral and bacterial pneumonia. Occupational therapy Patients should remain under the care of various medical specialists, such as an orthopedist and a pediatric neurologist. [primehealthchannel.com]

The patient had suffered an episode oflobar pneumonia in March 1996. His medicationswere carbamazepine and nifedipine. No cholesterol-lowering agents had been used in the previous 2years. [documents.tips]

This was despite frequent complications including construct failure in one case; two revision surgeries in another; camptocormia in two cases; dysphagia in two cases; and pneumonia in two cases. [thieme-connect.com]

In patients with newly diagnosed hypoxemia, chest imaging can help to exclude aspiration, intercurrent pneumonia, or atelectasis. [dovepress.com]

We emphasize mutations of ryanodine gene (RYR1) through its association with malignant hyperthermia and mutations of selenoprotein 1 (SEPN1) and nemaline by its association with nocturnal hypoventilation. [ncbi.nlm.nih.gov]

An arterial or capillary carbon dioxide level of 45 mmHg is consistent with hypoventilation. Additional testing may assist with the diagnosis of respiratory muscle weakness. [dovepress.com]

Weakness of respiratory muscles is common and may cause breathing difficulties, and nocturnal hypoventilation, a condition in which inadequate breathing during sleep results in increased levels of carbon dioxide in the blood (hypercarbia). [rarediseases.org]

Achilles tendon reexes were ab-sent, but all other deep tendon reexes were present.Overnight sleep oximetry revealed episodes of pro-found desaturation secondary to hypoventilation and,on occasion, cessation of respiratory effort. [myslide.es]

Nemaline myopathy (also called rod myopathy or nemaline rod myopathy ) is a congenital, hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. [en.wikipedia.org]

Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.es]

A 59-year-old man with severe neck extensor weakness had findings diagnostic of nemaline myopathy on muscle biopsy. Review of the literature shows that dropped head occurs in nearly half of the patients with adult-onset nemaline myopathy. [ncbi.nlm.nih.gov]

A 55-year-old man endured fluctuating muscle weakness with positive acetylcholine receptor and titin antibodies. [ncbi.nlm.nih.gov]

Affected infants have profound muscle weakness and severe hypotonia. [rarediseases.org]

Woman with Leg Weakness and Atrophic Muscle Fibers on Biopsy 554 Case 89A A Woman with Muscle Weakness and a Skin Rash 559 Case 90 A Man with Muscle Pains 567 Case 91 An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected Man with [books.google.com]

These patients have very severe muscle weakness and little to no movements. Death usually occurs early on, but there are case reports of patients who survive long-term. [thinkgenetic.com]

Osteoporosis is also common in NM. Although patients early on often have mobility in their joints that is past the normal range, as they age, joint deformities and scoliosis usually occur. [en.wikipedia.org]

Amin et al presented a patient with long-standing DHS and osteoporosis who was managed with instrumented fusion spanning C2 – T11 after suffering a fall and multiple thoracic vertebral fractures [ 6 ]. [thieme-connect.com]

Serologically Determined Gastric Mucosal Condition Is a Predictive Factor for Osteoporosis in Japanese Men. Dig Dis Sci. 60: 2063-2069, 2015. [neurology-kpum.com]

A dropped head or neck weakness or cardiomyopathy may be the first signs of the disorder. The quickness of the progression of muscle weakness is quite variable in this form. North, K. a. (2015, June 11). Nemaline Myopathy. [thinkgenetic.com]

Neck weakness may occur in isola-tion or in association with a generalized neuromus-cular disorder. [documents.tips]

Nemaline (rod) myopathy is a congenital muscle disease with a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. [ncbi.nlm.nih.gov]

Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy 10.1046/j.1440-1789.2002.00461.x A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. [scinapse.io]

onset and fatal outcome to asymptomatic forms. [the-medical-dictionary.com]

Nemaline Myopathy Life Expectancy The neonatal onset Rod Myopathy has a poor life expectancy and the patients often do not live more than 2 to 3 years. [primehealthchannel.com]

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol. 2007 Dec. 62(6):666-70. [Medline]. Bitoun M, Maugenre S, Jeannet PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. [emedicine.medscape.com]

January 21, 2009 Issue release date: 1995 Number of Print Pages: 2 Number of Figures: 0 Number of Tables: 0 ISSN: 0025-7931 (Print) eISSN: 1423-0356 (Online) For additional information: Abstract A 49-year-old woman was admitted to the hospital for hypercapnia [karger.com]

Bilateral diaphragmaticweakness remains rare, and the cause is often notestablished.5 This case study reports a patient who pre-sented with type 2 respiratory failure (insufcient ex-cretion of carbon dioxide causing hypercapnia andacidosis) secondary [myslide.es]

These include the presence of symptoms of sleep-disordered breathing, daytime hypercapnia 45 mmHg, hypoxemia during sleep, FVC of less than 40%–60% (depending on the diagnosis) or rapid decline in FVC, and low sniff nasal pressure. [dovepress.com]