Myotonia-Muscle

Myotonia

Special Characteristics

• Voluntary muscles do not relax after intense effort applied
• Classified by Thomsen Disease and Becker Disease
• Thomsen Disease
• Becker Disease-appears in late childhood; more common in males
• 1 in 100,000 in the US; 1 in 10,000 in Switzerland

Causes

• Genetic disorder; subjects have at least parent with myotonia
• autosomal dominant pattern
• Two types (Becker disease and Thomsen disease) differentiated by physical characteristics for microscopic similarities

Signs and Symptoms

• Occurs most often in legs, thought can happen in any skeletal muscle
• Usually starts at birth or early childhood

Diagnosis

• Tested with EMGs, genetics testing, and muscle biopsies

Treatment

• Prescribed medication including phenytoin, procainamide, quinine, and tocainide.

References

Cure Byte. (2011, August 29). Clinical trials and related photos for Myotonia congenita. Retrieved September 15, 2013, from http://trialx.com/curetalk/wp-content/blogs.dir/7/files/2011/05/diseases/Myotonia_Congenita-2.jpg

DM1 - Myotonic Dystrophy type 1. (n.d.).  Prosensa. Retrieved November 15, 2013, from http://www.prosensa.eu/patients-and-family/myotonic-dystrophy

Myotonia Congenita. (n.d.). The New York Times: Health guide. Retrieved November 14, 1996, from http://www.nytimes.com/health/guides/disease/myotonia-congenita/

Myotonia congenita. (n.d.). Genetics Home Reference. Retrieved November 15, 2013, from http://ghr.nlm.nih.gov/condition/myotonia-congenita

Paget's Disease of Bone

Osteitis deformans

Special Characteristics

• Bones grow too large and weak
• Most commonly found in the spine, skull, pelvis, and legs
• More common in males than females and older than younger

Causes

• Disruption in the process of new bone removing and replacing old bone
• Exact cause unknown, though scientists have found a correlation between Paget's Disease of Bone and select genotypes

Signs and Symptoms

• Pain
• Enlarged bones
• Broken bones
• Damaged cartilage in joints
• May result in bone growth deformities, such as bowed legs

Diagnosis

• X-rays and blood tests
• Presence on elevated alkaline phosphatase

Treatment

• Medicines and surgery
• Biophosphonates help to strengthen bones weakened by osteoporosis
• Maintaining a healthy habit of exercise and diet

References

“Cotton Wool” Appearance of Paget's Disease. (n.d.). The New England Journal of Medicine. Retrieved October 13, 2013, from http://www.nejm.org/doi/full/10.1056/NEJMicm0912945

Bowed legs from Paget's disease. (n.d.). WebMD - Better information. Better health.. Retrieved October 13, 2013, from http://www.webmd.com/a-to-z-guides/bowed-legs-from-pagets-diseasePaget's Disease of Bone: MedlinePlus. (n.d.). National Library of Medicine - National Institutes of Health. Retrieved October 13, 2013, from http://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.htmlPaget's disease of bone - MayoClinic.com. (n.d.). Mayo Clinic. Retrieved October 13, 2013, from http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485 

LEOPARD Syndrome

Specific Characteristics

Lentigines on a female Caucasian woman.

• ·      Autosomal dominant genetic disorder
• ·      Also known as multiple lentigines syndrome
• ·      Lentigines, dark brown string-like spots, cover the skin

Causes

• ·      Caused my mutations in the PTPN11 and RAEF1 genes.
• ·      50% chance on an affected parent passing the disease on to her offspring.

Signs and Symptoms

• ·      Lentigines; numerous black or dark brown spots, in varying lengths and shapes, on the skin
• ·      Electrocardiographic conduction defects; irregular electric impulses from the heart. Severe cases can result in fainting episodes, seizures, etc.
• ·      Ocular hyperterlorism; anatomical malfunctions in the formation of the head and facial areas
• ·      Pulmonary stenosis



Pulmonary Stenosis


• ·      Abnormalities of the genitals. Males experience unusual acuteness of the penis and/or failure of one or both testes. Females will experience underdeveloped or even absent ovaries.
• ·      Retarded growth; stunt in bone growth and/or growing of a bone down the chest’s center.

 

Diagnosis

• ·      Pale or tan discolorations of the skin at birth.
• ·      A parent or sibling has multiple lentigines.
• ·      X-ray and electrocardiography (EKG) exams will show internal birth defects in skeletal and electric impulses.

Treatment

• ·      Surgery, depending upon the location and severity of the affected areas.
• ·      Treatment, depending on the severity of the condition, not always necessary.
• ·      Hormone injections for affected individuals with abnormalities in genitals.
• ·      Hearing aids and speech therapy for affected individuals with damaged hearing.

References

Multiple lentigines syndrome - Genetics Home Reference. (n.d.). Genetics Home Reference - Your guide to understanding genetic conditions. Retrieved September 13, 2013, from http://ghr.nlm.nih.gov/condition/multiple-lentigines-syndrome

Pulmonic Stenosis. (n.d.). Home. Retrieved September 13, 2013, from http://www.marvistavet.com/html/pulmonic_stenosis.html

rare-diseases — National Organization for Rare Disorders. (n.d.). Welcome to NORD — National Organization for Rare Disorders. Retrieved September 13, 2013, from http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/718/viewFullReport