TK2d Basics

Thymidine Kinase 2 deficiency (TK2d) is an ultra-rare disease that affects many organs and systems in the body.

A multidisciplinary team of specialists is needed to care for a patient affected by TK2d.

These may include a pediatrician or primary care physician, neurologist, pulmonologist, metabolic specialist, gastroenterologist, nutritionist, orthopedist, physical therapist, occupational therapist, speech therapist, clinical geneticist and genetic counselor.

Pediatrician or primary care physician

The first signs and symptoms of TK2d most often become apparent during childhood, and the first medical professional that sees a patient is usually a pediatrician or primary care physician. 

Neurologist 

A neurologist is a medical professional who diagnoses and treats diseases affecting the brain and nervous system.

Neurologists play a central role in the care of a patient with TK2d as they monitor muscle weakness, follow developmental milestones and conduct electromyography studies.

Pulmonologist 

A pulmonologist focuses on diagnosing and treating diseases affecting the respiratory system, including the lungs and airways.

Patients with TK2d may experience several complications affecting the respiratory system, such as aspiration pneumonia due to weakness affecting the muscles used for breathing.

A pulmonologist can help monitor and manage these complications.

Gastroenterologist 

A gastroenterologist is a specialist who manages the digestive system.

A gastroenterologist can identify, monitor and treat gastrointestinal problems that may affect patients with TK2d, which may include reduced appetite, gastroesophageal disease or GERD, difficulty swallowing, vomiting, delayed gastric emptying, gastrointestinal pseudo-obstruction, diarrhea, constipation, pancreatitis or hepatopathy. 

Nutritionist 

A nutritionist can help develop meal plans and suggest foods and drinks that are easy to swallow and digest, which can improve the quality of life of patients with TK2d.

Orthopedist

Orthopedists specialize in diseases affecting the musculoskeletal system, which includes the bones, muscles, joints and soft tissues. 

Patients with TK2d should see an orthopedist who can help evaluate, monitor and manage musculoskeletal complications caused by the disease.

Physical therapist 

A physical therapist can help manage muscle weakness affecting patients with TK2d. They can prescribe exercises that can help prevent joint contractures, increase range of motion and guide patients on the use of assistive devices for mobility.

Physiotherapist

A chest physiotherapist can help manage reduced lung function and teach patients how to better clear mucus from their lungs and reduce the risk of lung infections.

Occupational therapist 

An occupational therapist can help patients overcome physical, mental and social challenges they may face in their everyday lives and improve their quality of life.

Speech therapist 

A speech therapist can support patients with TK2d whose speech may be impaired due to muscle weakness by helping them improve their communication and language skills.

Clinical geneticist 

A clinical geneticist is a healthcare professional who can diagnose and manage genetic conditions like TK2d. They can help patients and families understand the cause of the disease and what the outlook or prognosis may be.

Genetic counselor

A genetic counselor can educate patients and families about genetic diseases like TK2d.

They can help them understand their risk of passing a genetic disease onto their children and provide information about genetic testing options.