FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

Eric Sandefur, D.O., Pediatric Orthopaedic Resident

William G. Mackenzie, M.D., Attending Pediatric Orthopaedic Surgeon

August 31, 1995

CLINICAL CASE PRESENTATION

ORTHOPAEDIC DEPARTMENT

THE ALFRED I. DUPONT INSTITUTE

WILMINGTON, DELAWARE

HISTORY: 16 year old black male presented to the Alfred I. duPont Institute with the chief complaint of left scapular winging and weakness of the left arm. Patient also complained to the inability to abduct arms beyond the horizontal position. Patients had also notice increasing atrophy of the left arm He was also active in sports and played football but was unable to play basketball.

PHYSICAL EXAM: Facial characteristics included a transverse smile, inability to purse lips or whistle, and unable to close his eyes completely. Active abduction of the shoulders was approximately 90 degrees with a normal passive ROM. Motor strength of (L) UE was 4/5 except deltoid which as 5/5. Bother scapulae were elevated and medially rotated with marked winging noted with attempted abduction

STUDIES: EMG/NCS revealed a myopathic process. Left deltoid muscle biopsy revealed findings consistent with FSHD

TREATMENT: Right Scapulothoracic arthrodesis with wiring ribs 3 - 6 and ICBG: June of 1994 Left Scapulothoracic arthrodesis with wiring ribs 3 - 6 and ICBG: June of 1995

FOLLOW-UP: Markedly improve RPM with active abduction of 125 - 140 degrees and improved motor strength of both upper extremities.

benign form of muscular dystrophy predominantly affecting muscles of shoulder girdle and face
autosomal dominate disorder
there is considerable intrafamilial variability of phenotypic expression
complete penetrance by fourth decade
gene located at chromosome 4Q
prevalence is 1 in 20,000
occurs equally in male and female

ONSET:

can present at any age bur most commonly occurs at end of 1st decade or early second decade
early onset FSHD is uncommon (<5%) but these children are typically more affected and the disease process is more aggressive (children may become confined to a wheelchair by age 8 - 9)
life expectancy is normal
disease progresses insidiously with prolonged periods of apparent rest
partially affected or mild cases are common; some patients may not realize the disease process is present

disease initially affects the face and shoulder girdle but later may affect the trunk and pelvic girdle

1. FACIAL FEATURES:

2. SHOULDER GIRDLE FEATURES:

main musculoskeletal problem is secondary to the weakness of should girdle and scapular winging.
due to marked weakness of the muscles that fix the scapula to the thoracic wall, attempted abduction results in limited glenohumeral abduction with marked winging of the scapula
characteristic forward sloping to the shoulders
horizontal position of clavicles d/t weight of UE and weakness of trapezius
prominence of sternoclavicular joints
there may be atrophy of biceps and triceps with normal forearm musculature ("Popeye forearm")

3. OTHER FEATURES:

scoliosis and kyphoscoliosis are mild and usually occur late
disease often accompanied by sensorineural hearing loss
cardiac involvement is absent
early involvement of tibialis anterior may be seen along with calf pseudohypertrophy

CPK is usually normal
histology: not impressive; most constant finding is isolated small atrophic fibers intermixed with hypertrophic muscle fibers

A. TECHNIQUES:

Ketenjian (1978) described fasciodesis of scapula to the ribs utilizing fascial trips, Mersilene tapes (preferred), or Dacron strips
Copeland and Howard (1978) used cortical struts and screws to fix the scapula to the ribs
Bunch (1993) achieved fixation utilizing wires around the ribs and passed through the body of the scapula
Jakab and Gledhill (1993) modified Bunch's procedure and used wire fixation only along medial border of scapula and ICBG
Letournal (1990) passed a rib through a hole in the scapula and achieved fixation with plates, screws, and wires

all procedures resulted in improved abduction and flexion (Bunch and Jakab and Gledhill had better abduction with their techniques averaging 125 - 140 degrees)
also, the ability to sustain abduction and flexion was markedly improved despite progressive generalized weakness

B. COMPLICATIONS:

inappropriate positioning; there should be a 10 - 20 degree angle between vertebral border of scapula and the spine. <30 degrees results in loss of shoulder adduction and appearance of shrugging
rib and scapula fractures
brachial plexus palsy _+ brachial artery obstruction
pneumothorax, pleural effusion, and pleuritic pain
impaired pulmonary function (usually <10% of vital capacity)
Pseudoarthrosis

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Copeland S.A., Howard R.C. Thoracoscapular Fusion for Facioscapulohumeral Dystrophy. J. Bone Joint Surg. 60B:547-551,1978
Drennan J.C. Neuromuscular Disorders. In Morrissey RT9ed), Lovell & Winter's Pediatric Orthopaedics, Third Edition, 391-392,1990, Philadelphia, JB Lippincott
4.Jakab E., Gledhill R.B. Simplified Technique for Scapulocostal Fusion in Facioscapulohumeral Dystrophy. J. Pediatr. Orthop 13:749-751,1993
Ketenjian A.Y. Scapulocostal Stabilization for Scapular Winging in Facioscapulohumeral Muscular Dystrophy. J. Bone Joint Surg. 60A:476-480,1978
Letournel E., Fardeau M., Lytle J.O., Sirrautl M., Gosselin R.A. Scapulothoracic Arthrodesis for Patients Who Have Facioscapulohumeral Muscular Dystrophy. J. Bone Joint Surg. 72A:78-84,1990
Mackenzie W.G., Ishikawa S. Complications of Neuromuscular Disorders. In Epp, Jr., CH & Bowen Jr., Complications in Pediatric Orthopaedic Surgery, 627-630,1995
Tachdjian M.O. Facioscapulohumeral Muscular Dystrophy. In Tachdjian, MO(ed) Pediatric Orthopaedics, Second Edition, 2136,1990