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Introduction
Muscular dystrophy is a general term that describes a group of inherited and progressively debilitating myogenic disorders. Among these disorders, patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) comprise more than two-thirds of all patients suffering from muscular dystrophy. These are X-linked recessive disorders and thus most affected children are male. Causes for the occurrence of DMD in females include abnormalities of the X chromosome,1 X-autosome translocations,2 or random X inactivation (lyonization).3
There are families with muscular dystrophy in which the inheritance pattern is not X-linked but rather is compatible with autosomal recessive inheritance. The possible existence of an autosomal recessive gene responsible for a phenotype similar to DMD was discussed before molecular studies on DMD were possible.4 This phenotype was termed severe childhood autosomal recessive muscular dystrophy (SCARMD). Clinical differentiation of DMD/BMD from SCARMD is difficult unless the different mode of inheritance is clear from the family history. We report two Palestinian-American siblings diagnosed with y-sarco-- glycanopathy (a subtype of SCARMD) at age 10 years and 11 months old and 3 years and 1 month old.
Patient Report
The two siblings were seen at the outpatient clinic at the University of Illinois at Chicago. The 32-year-old parents, who were double first cousins, were of Palestinian descent. Prenatal and perinatal history were unremarkable in both siblings. We also examined the 8-year-old sister and the 7-year-old brother, who were developing normally and had normal neurologic examinations as well as normal creatine kinase (CK) values (77 and 127 U/L).
The girl was 10 years and 11 months old when she was first seen and presented with limb girdle weakness. She never crawled but rather scooted on her bottom. She learned to walk at 15 months, but was not able to rise from the floor if she fell. She has never been able to run by lifting her knees high, and she fatigued more easily than other children. She was normal cognitively. She and her mother reported increased disability for one year. Her CK level was 8,129 U/L in May 1998. On physical examination, the girl was alert and looked well. Head circumference was 52.5 cm, weight was 88 pounds, and height was 553/4 inches. General examination and cranial nerve examination were normal. Bulk...