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FSHD-like patients without 4q35 deletion
Gaku Yamanaka1, Kanako Goto, Tadayuki Ishihara
1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan.
Journal of the Neurological Sciences
|March 31, 2004
Summary
Facioscapulohumeral muscular dystrophy (FSHD) diagnosis can be challenging due to variable symptoms. This study identified non-4q35 deletion FSHD cases, highlighting diagnostic complexities and potential mimics.
Area of Science:
- Neurology
- Genetics
- Muscular Dystrophy Research
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) presents with progressive muscle weakness, primarily affecting facial, shoulder, and upper arm muscles.
- Diagnosis is complicated by significant clinical variability, including facial sparing, limb-girdle, and distal myopathy subtypes.
- While most FSHD cases (FSHMD1A) involve a 4q35 deletion, genetic heterogeneity is suspected.
Purpose of the Study:
- To investigate genetic heterogeneity in Facioscapulohumeral muscular dystrophy (FSHD) by identifying patients lacking the common 4q35 deletion.
- To characterize the clinical presentation of FSHD patients without the 4q35 deletion (non-4q35del).
Main Methods:
- Screened 200 Japanese patients with suspected FSHD for the absence of the 4q35 deletion.
- Clinically evaluated 40 identified non-4q35del FSHD patients.
- Compared clinical features of non-4q35del patients with typical FSHD presentations.
Main Results:
- Identified 40 non-4q35del FSHD patients among 200 individuals with suspected FSHD.
- All non-4q35del patients exhibited shoulder-girdle weakness; 75% also had facial weakness.
- Eight non-4q35del patients presented with symptoms indistinguishable from FSHD, with two ultimately diagnosed with Becker muscular dystrophy.
Conclusions:
- Facioscapulohumeral muscular dystrophy (FSHD) demonstrates significant clinical and likely genetic variability.
- A subset of FSHD patients lack the typical 4q35 deletion, suggesting alternative genetic causes.
- Other muscular dystrophy forms can mimic FSHD, underscoring the need for comprehensive diagnostic approaches.