Journal of Neurology and Neurorehabilitation Research

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Opinion Article - Journal of Neurology and Neurorehabilitation Research (2024) Volume 9, Issue 1

Living with fshd: Advances in diagnosis, management, and therapeutic strategies

Rosa Tewari *

Department of Human Genetics, Leiden University Medical Center, The Netherlands

*Corresponding Author:
Rosa Tewari
Department of Human Genetics, Leiden University Medical Center, The Netherlands

Received: 28-Dec-2023, Manuscript No. JNNR-24-137401; Editor assigned: 30-Dec-2023, PreQC No. JNNR-24-137401(PQ); Reviewed: 13-Jan-2024, QC No. JNNR-24-137401; Revised: 18-Jan-2024, Manuscript No. JNNR-24-137401(R); Published: 25-Jan-2024, DOI: 10.35841/aajnnr-9.1.188

Citation: : Tewari R. Living with fshd: Advances in diagnosis, management, and therapeutic strategies. J Neurol Neurorehab Res.2024;9(1):188


Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic muscle disorder that predominantly affects the skeletal muscles of the face, shoulder blades, and upper arms. As one of the most common forms of muscular dystrophy, FSHD affects approximately 1 in 20,000 people worldwide. The disease is characterized by progressive muscle weakness and atrophy, significantly impacting the quality of life of those affected. This comprehensive overview will cover the pathophysiology, symptoms, diagnosis, causes, treatment, and living with FSHD [1].

The symptoms of FSHD can vary widely among individuals in terms of severity and age of onset. However, the hallmark features include: Facial Weakness: Weakness of the facial muscles is often one of the earliest signs. This can result in difficulty closing the eyes, whistling, or smiling [2].

Shoulder Weakness: Weakness in the shoulder girdle muscles can lead to difficulty lifting the arms above the head, winging of the shoulder blades (scapular winging), and overall limited range of motion. Upper Arm Weakness: The muscles of the upper arms are typically affected, leading to difficulty performing tasks that require lifting or carrying objects [3].

Lower Limb Weakness: Although less common, some individuals may experience weakness in the lower limbs, resulting in foot drop and difficulties with walking. Asymmetry: Muscle weakness in FSHD is often asymmetric, meaning it can affect one side of the body more than the other [4].

FSHD is a genetic disorder with an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene from an affected parent is sufficient to cause the disease. In FSHD1, the disease is caused by the contraction of the D4Z4 repeat array on chromosome 4, leading to the inappropriate expression of the DUX4 gene. In FSHD2, mutations in the SMCHD1 gene result in changes that also lead to the activation of the DUX4 gene. In both types, the toxic DUX4 protein causes muscle cell damage and progressive muscle weakness [5].

There is currently no cure for FSHD, and treatment focuses on managing symptoms, slowing disease progression, and improving quality of life. A multidisciplinary approach involving neurologists, physical therapists, occupational therapists, and other specialists is essential. Key treatment strategies include: Physical Therapy: Regular exercise and physical therapy can help maintain muscle strength, flexibility, and joint mobility. Tailored exercise programs can help slow the progression of muscle weakness and prevent contractures [6].

Occupational Therapy: To assist with daily activities and recommend adaptive devices to improve independence and safety. This can include ergonomic tools, braces, and orthotic devices to support weakened muscles. Pain Management: Medications such as analgesics, anti-inflammatory drugs, and muscle relaxants can help manage pain and discomfort associated with muscle weakness and joint problems [7].

Surgical Interventions: In some cases, surgical procedures may be necessary to correct scapular winging or other deformities to improve function and reduce pain. Respiratory Support: For individuals with severe respiratory muscle weakness, non-invasive ventilation or other respiratory support may be needed. Nutritional Support: Ensuring adequate nutrition is important, especially if swallowing difficulties are present. Nutritional counseling and the use of feeding tubes may be necessary in severe cases [8].

Living with FSHD involves managing physical symptoms, addressing emotional and psychological needs, and planning for the future. Key aspects include: Regular Medical Care: Ongoing monitoring and management by a team of specialists to adjust treatments and address complications. Regular check-ups can help track disease progression and modify treatment plans as needed [

Lifestyle Modifications: Adapting activities to manage fatigue, avoid overexertion, and maintain muscle function. Energy conservation techniques can help manage fatigue more effectively. Mental Health Support: Counseling and support groups to address the emotional challenges of living with a chronic condition. Connecting with others who have FSHD can provide valuable emotional support and practical advice [10].


Facioscapulohumeral Muscular Dystrophy is a complex genetic disorder that affects the skeletal muscles, leading to progressive muscle weakness and atrophy. While there is no cure, advances in medical care and supportive therapies have improved the management and prognosis of the disease. A comprehensive approach to treatment, including physical therapy, occupational therapy, pain management, and surgical interventions, can help individuals with FSHD maintain function and quality of life. Ongoing research holds promise for more effective treatments and a deeper understanding of this challenging condition. Through continued efforts in scientific research, patient care, and advocacy, the outlook for those living with FSHD continues to improve.


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