These de novo cases of MMD present at a young age with aggressive MMD and uniquely have additional occlusive vascular lesions, including renal artery stenosis. [searchworks-lb.stanford.edu]

Such diarrhea may present at any time from the first month to the sixth month of age, and tends to recur during intercurrent infections. [rarediseases.org]

• Weakness

  At birth he had low muscle tone, blisters on his hands and feet, and a very weak cry. [rarediseases.org]

  Christina McCarthy More information Central core disease Central core disease Central core disease falls under the umbrella of congenital myopathies which are characterised by muscle weakness and wasting. [docplayer.net]

  Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory ataxia), absent reflexes (areflexia) of the lower legs [rarediseases.info.nih.gov]

• Crying

  At birth he had low muscle tone, blisters on his hands and feet, and a very weak cry. [rarediseases.org]

• Falling

  Christina McCarthy More information Central core disease Central core disease Central core disease falls under the umbrella of congenital myopathies which are characterised by muscle weakness and wasting. [docplayer.net]

• Diarrhea

  The secretory (watery) diarrhea should be treated intermittently with intravenous nutrition for the first year of life. The bouts of diarrhea may ease after variable periods of time. [rarediseases.org]

• Muscle Weakness

  Christina McCarthy More information Central core disease Central core disease Central core disease falls under the umbrella of congenital myopathies which are characterised by muscle weakness and wasting. [docplayer.net]

  Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory ataxia), absent reflexes (areflexia) of the lower legs [rarediseases.info.nih.gov]

• Skin Disease

  Spencer had already been tested for rare muscle and skin diseases and they all came back normal. We were by his side every day and spent the evenings in the hospital library urgently looking online for answers. [rarediseases.org]

  Etats précancéreux, Tumors of the skin and soft tissue. [searchworks-lb.stanford.edu]

• Blister

  Eruptions of fluid-filled blisters that resemble a skin disease known as epidermolysis bullosa simplex (EBS). These blisters were most obvious on the hands and feet, and cleared up in the first 3-6 months. 2. [rarediseases.org]

Creams and other topical treatments used for the management of burns may ease the discomfort and minimize the chances of infection. [rarediseases.org]

European Journal of Epidemiology. 2009;24(9):553–72. 37.Thomas R, Muliyil J. Egna-Neumarkt glaucoma study. Ophthalmology. 2001;108(9):1514. 38.Amerasinghe N. Determinants of the Optic Cup to Disc Ratio in an Asian Population. [es.studenta.com]

The Meryon Lecture at the 18th Annual Meeting of the Meryon Society Wolfson College, Oxford, UK, 12th September 2014: Neuromuscular disorders in Roma (Gypsies)--collaborative studies, epidemiology, community-based carrier testing program and social activities [wjgnet.com]

The Pathophysiology and Treatment of Glaucoma. JAMA. 2014;311(18):1901–11. 2.Quigley HA. The Prevalence of Glaucoma in a Population-Based Study of Hispanic Subjects. Archives of Ophthalmology. 2001;119(12):1819. 3.Quigley HA. [es.studenta.com]

Statin Inhibits Leukocyte-Endothelial Interaction and Prevents Neuronal Death Induced by Ischemia-Reperfusion Injury in the Rat Retina. Archives of Ophthalmology. 2002;120(12):1707. 32.Wang S, Bao X. [es.studenta.com]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies. J Clin Invest 2016;126:1023-38. [wjgnet.com]