The core care team for TK2d may include a neuromuscular neurologist, pulmonologist, nutritionist, physical therapist, and orthopedist. A pulmonologist monitors and manages respiratory complications.

TK2d signs and symptoms vary by individual, but muscle weakness (myopathy) is always present to some degree. Symptom severity and progression rate typically correlate with age at onset. 1 TK2d is ...

The study aims to measure changes in symptoms and disease activity scores as well as treatment-emergent adverse events. A Chinese study is recruiting patients with relapsed or refractory autoimmune ...

Another patient who has alpha-1 antitrypsin deficiency (AATD) recently spoke up in our support group. She reports that many people do not believe her when she says she has this condition. I can relate ...

Pediatric-onset of GPA is a rare occurrence, with an incidence rate of the disease at 1.8 per 1,000,000 population in US children aged 18 years or younger. In patients with pediatric-onset ...

At 18 months, progression-free survival was 96%, and overall survival was 96.8%, with no patients requiring subsequent therapy. The measurable residual disease (MRD)-guided combination of zanubrutinib ...

Serum anti-C5aR antibody concentrations are associated with major relapse at 12 months in new-onset and relapsing EGPA. Among individuals with eosinophilic granulomatosis with polyangiitis (EGPA), ...

Although the 3 mental health measures (anxiety, depression, and anger) improved, they increased less than the physical and social scores. Many aspects of social and physical health improve in patients ...

Overall, 42.9% (9 of 21) of the participants reported experiencing GPP-associated symptoms on a daily basis. Many patients with generalized pustular psoriasis (GPP) report experiencing chronic ...

Patients with MPO-ANCA+ spinal hypertrophic pachymeningitis had worsening spinal symptoms, lesions in the dura matter, more serious neurological symptoms, and a frequent need for emergency surgery.

Standardizing testing protocols can improve the application of the approach in the clinic and in research. Grasp function evaluation with dynamometers in patients with chronic inflammatory ...

Genetic testing showed that the patient had a heterozygous missense mutation (c.320G > A, p.G107D) in the PMP22 gene causing a classic demyelinating Charcot-Marie-Tooth phenotype. Researchers from ...