Affiliations: Children's Hospital of Wisconsin, Department of
PM&R, Medical College of Wisconsin, Milwaukee, WI, USA
Note: [] Address for correspondence: Dr. E. Moberg-Wolff, Suite 350 CCC,
999 N 92nd Street, Milwaukee, WI 53226, USA. Tel.: +1 414 266 3085; Fax: +1 414
266 3485; E-mail: [email protected]
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive anterior
horn cell disease that results in progressive muscular weakness and atrophy
without sensory involvement. A wide clinical spectrum that ranges from early
death to essentially normal adult live exists. We describe a case of two 12
years olds, who represent two of three surviving non-identical quadruplets,
born at 25 weeks gestational age. A diagnosis of hypotonic cerebral palsy (CP)
was made in early childhood and early intervention services were initiated. At
3 years of age, MRI's showed white matter changes. Both briefly attained Gross
Motor Functional Classification Scale (GMFCS) 3 status, but by 12 years of age
their ambulatory abilities had decreased to Level 4. Physical Medicine and
Rehabilitation (PM&R) physicians were consulted. On exam, distal lower
extremities atrophy, hypotonia, hyporeflexia, and muscle weakness were noted.
Neither child had upper motor neuron signs or spasticity. Cognition was normal.
Neuromuscular disorder was suspected and genetic testing confirmed spinal
muscular atrophy in both patients. While prior MRI/CT demonstrated static
encephalopathy, recognition of symptoms and signs consistent with neuromuscular
disease should have led to a secondary diagnosis. Therapeutic and surgical
treatment decisions may have differed. Fragmentation of care and lack of a
comprehensive team approach also contributed to the delay in recognition of
their dual diagnosis.
