Cardiac disease may be present in up to 33%. [emedicine.medscape.com]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]

However, they still present residual muscle weakness. In the present study, we used longitudinal muscle magnetic resonance imaging (MRI) to determine whether this condition is progressive. [ojrd.biomedcentral.com]

Dysarthria and bladder dysfunction are often present. Cerebellar ataxia is common and some patients first present with this as a prominent sign in the first and second decades. [disorders.eyes.arizona.edu]

Where GAA activity is partially present, correlation with clinical and laboratory findings is necessary. [neurologyindia.com]

• Developmental Delay

  More on Nervous System Disorders » Global developmental delay : Summary : A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and [familydiagnosis.com]

  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21 Is also known as ;coxpd21 Related symptoms: Autosomal recessive inheritance Global developmental delay Generalized hypotonia Motor delay Myopathy SOURCES: EFO OMIM ORPHANET MONDO UMLS More info [mendelian.co]

  delay caused by mutations in poly(A)-specific ribonuclease (PARN) Dhanraj, S; Gunja, SMR; Deveau, AP; Nissbeck, M; Boonyawat, B; Coombs, AJ; Renieri, A; Mucciolo, M; Marozza, A; Buoni, S; Turner, L; Li, HB; Jarrar, A; Sabanayagam, M; Kirby, M; Shago, [telethon.it]

• Swelling

  Rare cases present with distal leg pain or swelling with or without weakness or with asymptomatic hyperCKemia. Misdiagnosis as polymyositis can occur since inflammation can be present on muscle biopsy. [emedicine.medscape.com]

• Muscle Cramp

  Other symptoms of myopathy can include include muscle cramps, stiffness, and 1 ... ... [familydiagnosis.com]

  cramps, weakness of exercising muscles and myoglobinuria. [annalsofneurosciences.org]

  cramps Serum CK 4–25 x normal NCS normal EMG myopathic Caveolin-3 LGMD1D Onset 3d to 5th decade Proximal muscle weakness Cardiomyopathy and arrhythmias Serum CK 2–4 x normal NCS normal EMG myopathic Linked to chromosome 7q Gene unidentified LGMD1E Childhood [slideshare.net]

• Hypertrophy of Calf Muscles

  Generalized muscle weakness Hypertrophy of calf muscles Seizures, mental retardation Cardiomyopathy Serum CK 10–50 x normal EMG myopathic NCS normal MRI shows hydrocephalus and periventricular and frontal hypomyelination Fukutin Muscle-eye-brain disease [slideshare.net]

Treatment Treatment Options: No effective treatment for the general disorder has been reported. [disorders.eyes.arizona.edu]

Examinations performed before and during treatment included visual acuity (VA), spectral-domain optical coherence tomography, and electroretinography. Following total 48 weeks of treatment, VA decreased from 20/30 OD, 20/200 OS, to 20/40 OD, CF OS. [ijo.in]

• No satisfactory treatment yet available. 22. [slideshare.net]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [elsevier.com]

[Myopathy in adults caused by acid maltase deficiency: A trial of treatment with high protein diet]. Rev Med Interne 1992;13:149-52. [ PUBMED ] 47. Bodamer OA, Leonard JV, Halliday D. Dietary treatment in late-onset acid maltase deficiency. [neurologyindia.com]

Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth. [ojrd.biomedcentral.com]

In the infantile-onset form symptoms become apparent within the first few months of life and prognosis is poor such that most patients die within the first year or two of life without treatment. 5 Patients with classic infantile-onset Pompe disease are [sanofigenzymeonline.com.au]

The wide range of disease severity and the overlapping of many signs can make pedigree construction and the determination of recurrence risks and prognosis challenging. The only recourse may be genotyping. [disorders.eyes.arizona.edu]

Pathogenesis • An autoimmune etiology of the inflammatory myopathies is indirectly supported by an association with other autoimmune or connective tissue diseases; the presence of various autoantibodies(anti-Jo-1 antibodies ); an association with specific [slideshare.net]

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M. [emedicine.medscape.com]

Epidemiological data for Pompe disease has been derived from gene frequency studies, evaluation of anonymous dried blood spots and population-based screening programs. [sanofigenzymeonline.com.au]

Hadjigeorgiou, G; Jasinska-Myga, B; Jeon, BS; Kim, YJ; Kruger, R; Lesage, S; Markopoulou, K; Mellick, G; Morrison, KE; Puschmann, A; Tan, EK; Crosiers, D; Theuns, J; Van Broeckhoven, C; Wirdefeldt, K; Wszolek, ZK; Elbaz, A; Maraganore, DM; Genetic Epidemiology [telethon.it]

Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med 2005; 7: 147-50. 96. Winchester B, Bali D, Bodamer OA, et al. [medicinabuenosaires.com]

It appears that the general spectrum of myopathies described in the world literature is also seen in India, although the prevalence is difficult to ascertain, as there is very little published epidemiological data. [annalsofneurosciences.org]

BMC Neurology (2015) 15:20 5 In the past decade it has become apparent that this relatively simplistic view of Pompe disease pathophysiology is inadequate. [sanofigenzymeonline.com.au]

Molecular and metabolic pathophysiology MADD is an autosomal recessive disorder that results from a defect of electron transfer from the primary flavoprotein dehydrogenases to coenzyme Q10 in the mitochondrial electron transport chain. [1], [2], [3] The [neurologyindia.com]

Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders. Biochimie 2016; 130: 152-62. 17. Kishnani PS, Beckemeyer AA, Mendelsohn NJ. [medicinabuenosaires.com]

"Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation". Pediatric Transplantation. 3 Suppl 1 (Suppl 1): 102–7. doi : 10.1034/j.1399-3046.1999.00063.x. [en.wikipedia.org]

Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown. [emedicine.medscape.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.com]

[…] features are possibly due to reduced membrane proliferation and vesicular movement in the overcrowded muscle fibers of Pompe disease, and to the membrane remodelling occurring only in patients with late-onset GSDII, which would be a protective mechanism to prevent [research.unipd.it]

It is thought to be involved in the regulated assembly of V1 subunits onto the membrane sector or alternatively may prevent the passage of protons through V0 pores. [en.wikipedia.org]