Publications by authors named "S Souvannanorath"
Background: Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measures able to capture minimal changes in motor performances induced by therapy. The aim of this work is to describe the effect of Risdiplam on a cohort of 6 adult type 2 and type 3 SMA patients, using Motor Function Measure (MFM32) as a standardized scaleto quantify the motor improvements induced by therapy.
Results: Risdiplam at the dose of 5 mg/daily was administered to a population of 6 (4 F;2 M) type 2 (N = 4) and type 3 (N = 2), adult SMA patients.
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Tremor Other Hyperkinet Mov (N Y)
December 2023
Background: Essential tremor (ET) is considered the most frequent abnormal movement in the general population, with childhood onset in 5 to 30% of the patients.
Methods: A multicenter, descriptive cross-sectional study enrolled patients ⩽18 years with a definite diagnosis of ET according to the International Parkinson and Movement Disorders Society criteria. Demographic data, clinical and electrophysiological characteristics of the tremor, neurological examination and impact on quality of life were collected.
Article Synopsis
- Early diagnosis of cardiac amyloidosis (CA) is crucial for effective treatment, but it is often overlooked, misdiagnosed, and poorly managed.
- A retrospective study over 11 years analyzed 3,022 patients referred for suspected CA, showing a significant increase in referrals and a shift towards wild-type transthyretin amyloidosis (ATTRwt) being the most common diagnosis.
- The findings indicate that while awareness among cardiologists has grown, leading to more diagnoses of ATTRwt and less severe cases, patients with amyloid light chain (AL) amyloidosis still frequently present with severe cardiac symptoms.
Background: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI features for VCP patients have not been reported so far.
Methods: We collected muscle MRIs of 80 of the 255 patients who participated in the "VCP International Study" and reviewed the T1-weighted (T1w) and short tau inversion recovery (STIR) sequences.