Abstract
We give the description of the pattern of muscle affections in two autosomal dominant 4q35-linked facioscapuloperoneal muscular dystrophy (FSPMD) families in which the patients were re-examined by V.K. in 24 - 28 and 35 - 37 years after their first examination. The disease started with initial involvement of facial and shoulder girdle muscles and in some time later of the peroneal group (anterior tibial) of muscles became involved. However, in two probands the dystrophic process gradually extended to the thighs (posterior group of muscles, namely), pelvic girdle (gluteus maximus muscles, namely) and the upper arm (biceps brachii muscles were slightly affected) and in three their relatives with clinical facioscapuloperoneal (FSP) phenotype the severe involvement of some posterior thigh muscles during MRI study was revealed. In this connection, the term “facioscapulolimb muscular dystrophy, type 2 (FSLD2), a descending type with a “jump” with initial FSP phenotype” would be more correct instead of the name facioscapuloperoneal muscular dystrophy. The FSP phenotype constitutes merely a stage in the development of FSLD2. The CT and MRI pattern of muscle involvement does not fully correlate with clinical pattern of muscle affection. We suppose that classical AD FSPMD is an independent clinical form which is different from the classical FSHD although both of them are connected with 4q35 chromosomal deletion.
Highlights
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomaldominant disease characterized by gradually descending distribution of muscle weakness with successive involvement of the face, shoulder girdle, upper arm, trunk, pelvic girdle, and thigh and later lowers leg muscles
Some authors suppose that scapuloperoneal muscular dystrophy (SPD) with or without involvement of facial muscles is probably a variant of facioscapulohumeral muscular dystrophy (FSHD) [1,2,3,4,5,6,7,8,9]
That is why some neurologists didn’t include this sign in the name of the disease. It is not clear what degree of affection of isolated facial muscles must be in the SPD patient is order to add the word “facio” to the name “scapuloperoneal”? The opinion exists that in SPD patients the arm muscle are involved in the process only after the facial and shoulder girdle muscles become affected
Summary
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomaldominant disease characterized by gradually descending distribution of muscle weakness with successive involvement of the face, shoulder girdle, upper arm, trunk, pelvic girdle, and thigh and later lowers leg muscles. That is why some neurologists didn’t include this sign in the name of the disease It is not clear what degree of affection of isolated facial muscles must be in the SPD patient is order to add the word “facio” to the name “scapuloperoneal”? The opinion exists that in SPD patients the arm (humeral) muscle are involved in the process only after the facial and shoulder girdle muscles become affected These patients are presented by FSH phenotype but not FSP one at the early stage of the disease. Several studies have reported the value of CT and MRI in identifying patterns of muscle involvement in FSHD [18,19,20,21] It is not clear as what are the CT and MRI findings for lower limb muscles are present in facioscapuloperoneal muscular dystrophy (FSPMD) patients
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