Genetic Counselors

 Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder (or may be carrying a child at risk) are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning. This complex process can be separated into diagnostic (the actual estimation of risk) and supportive aspects.

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Spinal Muscular Atrophy: Late October 2019 Roundup

Spinal Muscular Atrophy: Late October 2019 Roundup

Data on SMA continue to roll out. This month has shown a growing focus and understanding on issues related to nusinersen as well as newborn screening for SMA across the globe. In addition, more preclinical and translation results have been published.  Below is the...

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SMA-related Genetic Counselor Articles on HCP

Spinal Muscular Atrophy: Late October 2019 Roundup

Spinal Muscular Atrophy: Late October 2019 Roundup

Data on SMA continue to roll out. This month has shown a growing focus and understanding on issues related to nusinersen as well as newborn screening for SMA across the globe. In addition, more preclinical and translation results have been published.  Below is the...

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Orthopedic surgery or orthopedics, also spelled orthopaedic[s], is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal trauma, spine diseases, sports injuries, degenerative diseases, infections, tumors, and congenital disorders.

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Assisted Bridge Exercise Along With Hip Abductor And Adductor Muscle Strengthening (Part 2)

Assisted Bridge Exercise Along With Hip Abductor And Adductor Muscle Strengthening (Part 2)

Working with a patient with SMA is not all that different from working with any other patient. Your plan of care advances and changes while working with the patient and making observations as you see fit to the patient’s overall wellbeing. To get Michael positioned...

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Spinal Muscular Atrophy: Late October 2019 Roundup

Spinal Muscular Atrophy: Late October 2019 Roundup

Data on SMA continue to roll out. This month has shown a growing focus and understanding on issues related to nusinersen as well as newborn screening for SMA across the globe. In addition, more preclinical and translation results have been published.  Below is the...

read more

Pulmonologists

Pulmonology is a medical speciality that deals with diseases involving the respiratory tract.[1] The term is derived from the Latin word pulmō, pulmōnis (“lung”) and the Greek suffix -λογία, -logia (“study of”). Pulmonology is synonymous with pneumology (from Greek πνεύμων (“lung”) and -λογία), respirology and respiratory medicine.

Pulmonology is known as chest medicine and respiratory medicine in some countries and areas. Pulmonology is considered a branch of internal medicine, and is related to intensive care medicine. Pulmonology often involves managing patients who need life support and mechanical ventilation. Pulmonologists are specially trained in diseases and conditions of the chest, particularly pneumonia, asthma, tuberculosis, emphysema, and complicated chest infections.

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Nurses/Nurse Practitioners

Nurse practitioners are healthcare professionals educated and trained to provide health promotion and maintenance through the diagnosis and treatment of acute illness and chronic conditions. According to the International Council of Nurses, an advanced practice registered nurse (APRN) is “a registered nurse who has acquired the expert knowledge base, complex decision-making skills and clinical competencies for expanded practice, the characteristics of which are shaped by the context and/or country in which s/he is credentialed to practice. A master’s degree is recommended for entry level.

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Spinal Muscular Atrophy: Late October 2019 Roundup

Spinal Muscular Atrophy: Late October 2019 Roundup

Data on SMA continue to roll out. This month has shown a growing focus and understanding on issues related to nusinersen as well as newborn screening for SMA across the globe. In addition, more preclinical and translation results have been published.  Below is the...

read more

Neurologists

Neurology (from Greek: νεῦρον (neûron), “string, nerve” and the suffix -logia, “study of”) is a branch of medicine dealing with disorders of the nervous system. Neurology deals with the diagnosis and treatment of all categories of conditions and disease involving the central and peripheral nervous systems (and their subdivisions, the autonomic and somatic nervous systems), including their coverings, blood vessels, and all effector tissue, such as muscle.[1] Neurological practice relies heavily on the field of neuroscience, which is the scientific study of the nervous system.

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Social Workers

Social work is a practice-based profession and an academic discipline that promotes social change and development, social cohesion, and the empowerment and liberation of people. Principles of social justice, human rights, collective responsibility and respect for diversities are central to social work. Underpinned by theories of social work, social sciences, humanities and indigenous knowledge, social work engages people and structures to address life challenges and enhance wellbeing.

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The Amino Acid Diet and Its Benefits

The Amino Acid Diet and Its Benefits

Nutrition has always been a challenge for my daughter, Ella. And, in turn, it is a challenge for my wife and me. Due to Ella's disease, she has an increased amount of difficulty digesting long-chain fats (meats, cheeses, etc.) and she also has a hard time maintaining...

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Physical Therapists

Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function. Physical therapy is used to improve a patient’s quality of life through examination, diagnosis, prognosis, physical intervention, and patient education. It is performed by physical therapists (known as physiotherapists in many countries).

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Nutritionists

A nutritionist is a person who advises on matters of food and nutrition and their impacts on human health. Different professional terms are used in different countries, employment settings and contexts: nutrition scientist, public health nutritionist, dietitian-nutritionist, clinical nutritionist, and sports nutritionist. Dietitians and nutritionists evaluate the health of their clients. And based on their findings, they advise clients on which foods to eat. Both are both experts in food and diet, and both are considered to be healthcare professions. 

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The Amino Acid Diet and Its Benefits

The Amino Acid Diet and Its Benefits

Nutrition has always been a challenge for my daughter, Ella. And, in turn, it is a challenge for my wife and me. Due to Ella's disease, she has an increased amount of difficulty digesting long-chain fats (meats, cheeses, etc.) and she also has a hard time maintaining...

read more