Diaphragm weakness in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration.

Background: Late-onset Pompe disease (LOPD) patients may still need ventilation support at some point of their disease course, despite regular recombinant human alglucosidase alfa treatment. This suggest that other pathophysiological mechanisms than muscle fibre lesion can contribute to the respiratory failure process. We investigate through neurophysiology whether spinal phrenic motor neuron dysfunction could contribute to diaphragm weakness in LOPD patients.

Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function.

Introduction: Nusinersen was approved for 5q spinal muscular atrophy (SMA), irrespective of age, SMA type or functional status. Nonetheless, long-term data on adults with milder phenotypes are scarce. We aimed to characterize evolution on motor and respiratory function in our cohort of adults with type 3 SMA.

Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy.

Hereditary amyloid transthyretin (ATTRv) amyloidosis is a devastating hereditary multisystemic disease affecting predominantly the peripheral and autonomic nervous systems and the heart. ATTRv is caused by mutations in the () gene, leading to extracellular deposition of amyloid fibrils in multiple organs including the peripheral nervous system. If untreated, it is associated with a fatal outcome 10-12 years after disease onset.

Trends in the diagnostic delay and pathway for amyotrophic lateral sclerosis patients across different countries.

Background: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with a median survival of 2-5 years. An early diagnosis is essential for providing ALS patients the finest management possible. Studies from different countries report a similar median diagnostic delay of around 12 months, which is still far from desirable.

Delayed Diagnosis and Diagnostic Pathway of ALS Patients in Portugal: Where Can We Improve?

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with unsatisfactory treatment options. Best management and recruitment into clinical trials requires early diagnosis. However, diagnosis is often delayed.

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cachexia, palpebral ptosis, ophthalmoparesis, sensorimotor polyneuropathy and leukoencephalopathy. The diagnosis is established by the presence of typical clinical and neuroimaging features, positive family history, and abnormal genetic test.

Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.

Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, characterized by severe and progressive sensation impairment, leading to ulcero-mutilating complications. FAM134B gene, also known as RETREG1 gene, mutations have been reported to be associated to HSAN-IIB. We report four patients from two unrelated families who developed during childhood a sensory axonal neuropathy with variable severity and pronounced nociception impairment.

Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.

Distal myopathies are a clinically and genetically heterogeneous group characterized by distal weakness at onset. Distal myopathies are classified according to age of onset, inheritance pattern, clinical features and molecular diagnosis. Inclusion body myopathy with early-onset Paget disease and fronto-temporal dementia is a rare adult late-onset disease related to valosin-containing protein gene mutations with an autosomal dominance inheritance.

Non-invasive evaluation of sudomotor function in patients with myasthenia gravis.

Objectives: Myasthenia gravis (MG) is an autoimmune disease associated with antibodies against the nicotinic muscle acetylcholine receptor (AChR) at the neuromuscular junction. Dysautonomia has been previously described in MG. Electrochemical skin conductance (ESC), assessed by Sudoscan, is a non-invasive method that allows evaluation of sudomotor function.

Riluzole-induced recurrent pancreatitis.

Riluzole is the only drug approved for the treatment of patients with Amyotrophic Lateral Sclerosis (ALS). It is well tolerated, being the most frequent adverse effects asthenia, nausea and reversible increase of liver enzymes levels. Severe adverse effects are extremely rare.