Publications by authors named "N Birouk"

Article Synopsis
  • - Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder that leads to muscle weakness and heart problems, mainly caused by mutations in specific genes, identified through next-generation sequencing (NGS).
  • - The study examined two Moroccan patients with EDMD, revealing one with a known splicing variant and another with a new frameshift variant, along with testing relatives for carrier status.
  • - The findings highlight NGS as crucial for accurately diagnosing EDMD, managing patient care, and providing genetic counseling to affected families.
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Stiff person syndrome (SPS) is a progressive autoimmune disorder characterized by muscle rigidity, frequent falls, and spasms, affecting primarily women. Recent advances have linked SPS to specific antibodies, such as anti-glutamic acid decarboxylase (GAD)-65, but effective treatments remain elusive. We report the case of a 53-year-old female who developed chronic lower back pain, tingling paresthesias, and progressive rigidity in the lower limbs.

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Dopa-responsive dystonia (DRD) is a hereditary movement disorder due to a selective nigrostriatal dopamine deficiency. It is characterized by onset in childhood or adolescence with marked diurnal fluctuation with or without Parkinsonian features, and is caused by mutations in GCH1 gene. We report in this study the clinical and genetic features of the first DRD Moroccan patient.

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Carpal tunnel syndrome is the most common neuropathy affecting the upper limb. Several therapeutic approaches are used to treat this syndrome, including conservative treatment, often used as the first line treatment. We here report the case of a 61-year-old female patient, presenting to the Department of Clinical Neurophysiology of the Specialty Hospital, Rabat, with moderate and bilateral carpal tunnel syndrome with sensory loss confirmed by electroneuromyography (ENMG).

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Background: Carpal tunnel syndrome (CTS) is the most prevalent upper limb compression neuropathy. Surgical or nonsurgical treatment is recommended. Both mild and moderate CTS can be managed conservatively.

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