A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.

Background: Congenital muscular dystrophies (CMDs) are diverse early-onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI-related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. We report a consanguineous Malian family with three siblings affected by UCMD due to a novel homozygous splice site variant in the COL6A1 gene.

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.

Background And Objectives: Progressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological deterioration. We investigated the genetics of three unrelated patients with PME from Mali, a country in sub-Saharan Africa highly underrepresented in genetic and genomic research.

Methods: Participants were carefully examined and phenotyped.

A novel de novo variant in the gene causes cleidocranial dysplasia in a Malian girl.

Key Clinical Message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene.

Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes.

A rare case of thyrotoxic periodic paralysis revealing Graves' disease in a young Malian.

Sporadic thyrotoxic periodic paralysis (TPP) is a rare muscle disorder that manifests with abrupt muscle weakness and hypokalemia associated with hyperthyroidism. It is mostly reported in the Asian population, and rare in Caucasians. Only few cases have been reported in people with black ancestry.

Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali.

To identify the etiologies of hearing impairment (HI) in schools for students who are deaf and to use a systematic review to summarize reports on the etiologies and clinical and genetic features of HI in Mali. We included individuals with HI that started before the age of 15 years old. Patients were carefully evaluated under standard practices, and pure-tone audiometry was performed where possible.

Neuropathic pain in Mali: The current situation, comprehensive hypothesis, which therapeutic strategy for Africa?

Introduction: According to the taxonomy of the International Association for the Study of Pain (IASP 2011), neuropathic pain (NeuP) is defined as "". NeuP is currently well-defined clinically, despite a high degree of etiological variation, and it has become a significant public health problem. This work aimed to study the situation regarding NeuP in current practice in Mali, as well as to analyze the therapeutic environment of the patients.

Diabetic polyneuropathy with/out neuropathic pain in Mali: A cross-sectional study in two reference diabetes treatment centers in Bamako (Mali), Western Africa.

Introduction: Diabetic polyneuropathy (DPN) with or without neuropathic pain is a frequent complication of diabetes. This work aimed to determine the prevalence of diabetic polyneuropathy, to describe its epidemiological aspects, and to analyze the therapeutic itinerary of patients with DPN.

Methods: This was a cross-sectional, descriptive study performed synchronously over six months at two major follow-up sites for patients with diabetes in Mali.

Validation of two parent-reported autism spectrum disorders screening tools M-CHAT-R and SCQ in Bamako, Mali.

Background: Early screening is crucial for early autism spectrum disorders (ASD) diagnosis and intervention. ASD screening tools have mostly been constructed based on the Western cultural context. We hypothesized that their use in Mali may require a prior validation.

Genetics and genomic medicine in Mali: challenges and future perspectives.

Genetics and genomic medicine in Mali: challenges and future perspectives.

Non-motor signs in patients with Parkinson's disease at the University Hospital of Point "G", Mali.

Introduction: Despite significant progress in the field of scientific research on Parkinson's disease (PD), the prevalence and pathophysiology of its non-motor signs remains less understood than the classic motor signs of bradykinesia, rigidity, tremor and postural instability. Data covering this topic are rare in Africa, and almost non-existent in sub-Saharan Africa. Thus, this study aims to highlight the frequency of certain non-motor signs in PD patients followed in the Department of Neurology of the University Hospital Point "G", Bamako, Mali.

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

Introduction: Spinal muscular atrophy (SMA) and sporadic amyotrophic lateral sclerosis (SALS) are both motor neuron disorders. SMA results from the deletion of the survival motor neuron () 1 gene. High or low copy number and the absence of have been reported as risk factors for the development or severity of SALS.

Cauda equina syndrome and profound hearing loss after spinal anesthesia with isobaric bupivacaine.

A 33-yr-old man undergoing anorectal surgery developed cauda equina syndrome and bilateral profound hearing loss after single-injection spinal anesthesia with isobaric bupivacaine. There was no pain on needle placement. Neurologic assessment found impaired sensation to pinprick in the perineal region, lower extremity paralysis, and bowel and bladder incontinence.

Fibrodysplasia ossificans progressiva in a Malian boy of Bamako.

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare hereditary connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of striated muscles and soft tissues. We report a case of FOP in a Malian boy and review the clinical and radiographic manifestations of this disorder. The body TDM showed ossifications and calcifications in the muscles of the large rhomboid, the erector muscles of the rachis and the trapezius muscles.