Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Proximal myotonic myopathy (DM2, PROMM) has not been reported in patients younger than 18 years, and apparent lack of congenital and childhood forms is thought to be one of the distinctive clinical characteristics of this trait. We now describe a 2-year-old boy, the youngest member of a family with a history for myotonia in 2 generations. The patient's 35-year-old mother was diagnosed with DM2 of late juvenile onset. She developed aggravating myotonic symptoms during pregnancy. Remarkably few intrauterine child movements were noticed. After birth the child showed general muscular hypotonia with delayed statomotoric development (sitting and crawling at 13 months, first lifting into standing position at 18 months). Muscle reflexes were normal. In the CL3N58 region of ZNF9, DM2-typical unstable expanded CCTG arrays of about 14.5 kb (about 2,500 repeats) were detected both in the mother and the patient by Southern blotting. Expansion of the DM1-specific DMPK CTG repeat was excluded.
 ...
PMID:Does proximal myotonic myopathy show anticipation? 1848 32

Chronic complications of diabetes are associated mainly with changes in major and small arterial vessels as well as in peripheral and autonomic fibers of the nervous system. For years it has been suggested that DM2 does not predispose to osteoporosis because bone mineral density (BMD) in DM2 patients is commonly normal or even increased. However, results of recent large cross-sectional studies have indicated that patients with DM2 have significantly increased risk of bone fractures, predominantly hip fractures (by 70%). Results of these studies suggest that the increased risk of fractures in DM2 is independent of BMD. In this group of patients is frequently associated the loss of vision caused by diabetic eye disease, peripheral neuropathy, arterial hypertension, orthostatic hypotonia (caused by autonomic neuropathy or/and by concomitant antihypertensive treatment), and ischemic disease of the brain, heart and lower extremities--conditions that predispose to falls. There are no specific methods of prophylaxis and treatment of osteoporosis associated with diabetes; therefore they should be based on widely accepted principles as in non-diabetic populations. It seems that in DM2 patients the most purposeful strategy could be the popularization of healthy attitudes aiming the elimination of unfavorable dietetic and environmental factors, such as low physical activity, smoking, and low vitamin D intake, as well as education against falls.
 ...
PMID:[Does type 2 diabetes predispose to osteoporotic bone fractures?]. 1861 97

Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases by consulting the main libraries (Pubmed, Scopus and Google Scholar) including the more common forms of muscular dystrophies such as dystrophinopathies, dystroglycanopathies, myotonic dystrophies, facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, congenital myotonia, and congenital myopathies. A consistent, widespread cortical and subcortical involvement of grey and white matter was found. Abnormalities in the functional connectivity in brain networks and metabolic alterations were observed with positron emission tomography (PET) and single photon emission computed tomography (SPECT). Pathological brain changes with cognitive dysfunction seemed to be frequently associated in NMDs. In particular, in congenital muscular dystrophies (CMDs), skeletal muscular weakness, severe hypotonia, WM abnormalities, ventricular dilatation and abnormalities in cerebral gyration were observed. In dystroglycanopathy 2I subtype (LGMD2I), adult patients showed subcortical atrophy and a WM periventricular involvement, moderate ventriculomegaly, and enlargement of subarachnoid spaces. Correlations with clinical features have been observed with brain imaging characteristics and alterations were prominent in congenital or childhood onset cases. In myotonic dystrophy type 2 (DM2) symptoms seem to be less severe than in type 1 (DM1). In Duchenne and Becker muscular dystrophies (DMD, BMD) cortical atrophy is associated with minimal ventricular dilatation and WM abnormalities. Late-onset glycogenosis type II (GSD II) or Pompe infantile forms are characterized by delayed myelination. Only in a few cases of oculopharyngeal muscular dystrophy (OPMD) central nervous system involvement has been described and associated with executive functions impairment.
 ...
PMID:Advances in imaging of brain abnormalities in neuromuscular disease. 3110 70