Death in childhood is frequent in the severe form of the disease, due to respiratory failure. [uniprot.org]

In the rare neurocutaneous melanosis syndrome malignant transformation of a hypermelanotic leptomeninges leads to death in childhood. 115 Summary As knowledge of pathophysiology grows, so does the refinement of diagnoses. [jnnp.bmj.com]

It is also characterised by painless swelling of the draining lymph node (bubo). Serological testing (Venereal Disease Research Laboratory test) may be negative during the early phase, but invariably becomes positive within 1 month of infection. [jnnp.bmj.com]

His daughter, aged 18 years, had numbness and tingling in the back of her legs during gym class and middle finger numbness when holding a pen or playing the flute, but she denied episodic weakness; symptom onset was at age 13 years. [emedicine.medscape.com]

Volume 2 covers tumors, the phacomatoses, and vascular disease. Volume 3 covers degenerative, metabolic, infectious, inflammatory, and demyelinating diseases. [books.google.de]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.de]

On this write-up I’ll define some easy to understand suggestions to remember in regards for the climate and fishing so that you might begin to utilise this data to the edge. [weathertomorrow.org]

The initial neurological assessment suggested mildly expressed Emery Dreifuss muscular dystrophy (EDMD). [escardio.org]

[…] genetic link in sudden infant death syndrome Rare genetic mutations associated with impairment of the breathing muscles are more common in children who have died from sudden infant death syndrome (also known as ‘cot death’) than in healthy controls, suggesting [news-medical.net]

X-linked dominant, semi-dominant and recessive inheritance have been suggested and skewed X-inactivation has not been excluded. [rarediseases.info.nih.gov]

UA obstruction is common in all forms of MPS due to adenotonsillar enlargement, large and protruded tongue, reduced retropalatal and retroglossal space, narrow trachea and nasal airway, short neck and small thoracic cage. [frontiersin.org]

This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease. [books.google.de]

Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes [books.google.de]

Peripheral neuropathy occurs in about 10% of those with Sjögren’s syndrome. [jnnp.bmj.com]

neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic muscle involvement in 50% sarcoidosis patients Symmetrical proximal muscle weakness Focal muscle weakness from sarcoid granuloma Peripheral neuropathy CNS [clevelandclinicmeded.com]

[…] disease type C, severe perinatal form Non-dystrophic myopathy Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Opsoclonus-myoclonus syndrome Overlap myositis Paramyotonia congenita of Von Eulenburg Parasitic myositis Periodic paralysis Peripheral [se-atlas.de]

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. [ncbi.nlm.nih.gov]

This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease. [books.google.de]

Samani, Aarno Palotie, CARDIoGRAM Consortium and the International Headache Genetics Consortium posted to no-tag by Terkko on 2016-04-13 06:38:47 Abstract To apply genetic analysis of genome-wide association data to study the extent and nature of a shared [citeulike.org]

[…] scapular winging, and later distal leg muscle weakness Hearing loss Retinal telangiectasias Mitochondrial myopathies 1 per 8000 population Exercise intolerance Proximal girdle muscle weakness Extraocular muscle weakness Peripheral neuropathy Migraine headaches [clevelandclinicmeded.com]

Hypercapnia, somnolence, morning headaches, and attention deficits are seen in children with SMA I–II. [frontiersin.org]

On examination, most patients with CMT exhibit distally dominant weakness, hyporeflexia, and muscle atrophy affecting the legs earlier and more significantly than the arms. [emedicine.medscape.com]