Overview
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy, primarily affecting the face, shoulder girdles, and upper arms. Nutritional deficiencies and oxidative stress are common, impacting physical performance 1.Diagnosis
Clinical Presentation: Weakness and atrophy in facial, shoulder, and upper arm muscles 123.
Muscle Strength Testing: Quantitative measurements using tools like the Iowa Oral Performance Instrument (IOPI) for assessing orofacial muscle strength and endurance 2.
Genetic Testing: Southern blot analysis for detecting EcoRI fragment abnormalities linked to chromosome 4q35 3.
Neurological Assessment: Evaluation for associated cognitive impairment and epilepsy, particularly in early-onset cases 3.Management
Nutritional Support: Supplementation with vitamins C, E, zinc, and selenium to improve physical performance, especially in deficient patients 1.
Dietary Monitoring: Regular assessment of dietary intake and plasma concentrations of essential vitamins and minerals due to potential deficiencies 1.
Symptomatic Care: Address swallowing and communication difficulties with targeted interventions based on orofacial muscle strength and endurance 2.Special Populations
Pediatrics: Early onset FSHD may present with mental retardation and epilepsy, requiring multidisciplinary management 3.
Comorbidities: Consider cognitive impairment and epilepsy in early-onset cases, necessitating neurological support 3.Key Recommendations
Monitor and Supplement Nutritional Deficiencies: Regularly assess and supplement with vitamins C, E, zinc, and selenium to address deficiencies impacting physical performance (Evidence: Moderate 1).
Evaluate Orofacial Muscle Function: Use quantitative tools like IOPI to assess orofacial muscle strength and endurance to guide interventions for swallowing and communication difficulties (Evidence: Moderate 2).
Genetic and Neurological Screening: Perform genetic testing and neurological assessments, especially in early-onset cases, to identify associated cognitive impairment and epilepsy (Evidence: Weak 3).References
1 Amzali S, Wilson VD, Bommart S, Picot MC, Galas S, Mercier J et al.. Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy. Nutrients 2023. link
2 Mul K, Berggren KN, Sills MY, McCalley A, van Engelen BGM, Johnson NE et al.. Effects of weakness of orofacial muscles on swallowing and communication in FSHD. Neurology 2019. link
3 Miura K, Kumagai T, Matsumoto A, Iriyama E, Watanabe K, Goto K et al.. Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. Neuropediatrics 1998. link
4 Furukawa T. Neurogenic FSH muscular atrophy. Muscle & nerve. Supplement 1995. link