Bringing CNS Members Together to Make Children’s Lives Better


Alfred Spiro, MD

Profile written by SOLOMON L. MOSHÉ, MD


Dr. Alfred J. Spiro has been in the forefront of pediatric neurology, especially as it pertains to neuromuscular disorders, for over 50 years. He has made significant contributions to the science of medicine using a humanistic approach and simultaneously attracted and cultivated the new leaders for tomorrow.

Dr. Spiro graduated with his MD degree in 1955 from the University of Bern, Faculty of Medicine in Bern, Switzerland and then did his pediatric residency in Babies Hospital in Newark, New Jersey followed by a neurology residency at the Hospital of the University of Pennsylvania and child neurology residency at the Children’s Hospital in Philadelphia. In between his residencies he was in active duty in the United States Public Health Service. He was appointed at Albert Einstein in July of 1966 and he remained with us for the rest of his career, developing an outstanding child neurology division and neuromuscular program beyond compare. Al was the director of child neurology at Einstein from 1980 to 1995. He trained scores of pediatric neurology. Although very interested in neuromuscular disorders, he made sure that all aspects of neurology were covered, providing an encyclopedic knowledge to the residents he trained.

From very early on Al was interested in neuromuscular diseases and he was the first to describe a variety of neuromuscular diseases using histochemistry. Indeed, he created one of the first histochemistry labs in the US, which was absolutely necessary before neurogenetic testing became available many decades later. He was and still is a master at muscle biopsy interpretation. He described a series of mitochondrial myopathies and these diseases can perhaps be best classified as “Spiropathies”.

He was able to describe clinical features that made the diagnosis possible and the confirmation by detailed immunological studies. He made foundational contributions in the areas of congenital myopathies (myotubular, nemaline), Duchenne muscular dystrophy, myotonic dystrophy, sarcoglycanopathies, limb girdle muscular dystrophy and spinal muscular atrophy. He described unique features that aid in the diagnosis of neuromuscular diseases such as minipolymyoclonus in children with spinal muscular atrophy. Here as a brief reflection of the breadth and depth of Al’s clinical work is his publication history, rich with case reports and case series that span the field of neuromuscular disorders:

  • In 1965 (JAMA Neurology), he described a hereditary occurrence of nemaline myopathy, a disorder that had been identified by Shy et al. only two years before and that had appeared not to be hereditary in all other reports up to that time.
  • In 1966 (Arch Neurol), Al reported his examination of an adolescent boy whose muscle biopsy revealed fetal-type myotubes instead of mature muscle cells, and thus described myotubular myopathy for the first time; now, the field recognizes the genetic abnormalities and complex relationships among various forms of myotubular and centronuclear myopathies.
  • He reported in 1970 both a new mitochondrial myopathy (JAMA Neurology) and familial cases of hereditary spastic paraparesis with sensory neuropathy
    (Dev Med Child Neurol).
  • As early as 1977, Al was offering diagnostic algorithms for the child with muscle weakness, a common and puzzling situation for clinicians.
  • Limb-girdle muscular dystrophy, nemaline myopathy, adrenoleukodystrophy, myotonic dystrophy, amyotrophic lateral sclerosis, polymyositis, and of course Duchenne and Becker muscular dystrophies: all of these disorders came under Al’s scrutiny, and he shared his findings with us

In his neuromuscular program, he included patients not only with muscular dystrophy or mitochondrial myopathies but all aspects of the neuromuscular disorders. He developed the first such clinic in the New York metropolitan area which grew over time and attracted the interest of many doctors keen to better understand neuromuscular diseases. He molded his neuromuscular clinic into a comprehensive, multi-disciplinary program that was a regional magnet for patients of all ages, newborn to elder, suffering from all types of neuromuscular disorders. The genetic maps we drew required
multiple family members and multiple generations, more than might be recruited through a purely pediatric practice. He taught generations of trainees on the approach to the child with muscle weakness.

Al has excelled in all aspects of Child Neurology. Many of the students he mentored during his 15-year tenure as director of the Einstein/Montefiore program have advanced the field across a broad spectrum of specialized studies based on his original contributions. As a clinician, as a writer, and as a researcher, he always keeps in the forefront the needs of his patients. He does not let the rest of us forget for a moment that what we do impacts the lives of individuals. He has kept medicine humane even when few or no treatment options are available to offer to our patients.

On his retirement, after being on the faculty of the Albert Einstein College of Medicine for 51 years, a tree on the lawn in front of one of the main buildings was dedicated as a lasting, rooted reminder of the decades of Al’s service (see the photo with Marge, Al’s wife of 56 years). The dedication was followed by a dinner at the Faculty Club.

With retirement, Al is able to have more adequate time to pursue his many non-medical interests. Photography has been a major interest since Al was a child. This includes both nature and general imaging in which Al competes in an active camera club. Going to the Metropolitan Opera or viewing performances in HD in a local theater with Marge has been a tradition for several decades. Reading and museum-going also have been major interests for many years.

Al and Marge, who when they met was a head nurse at Babies” Hospital at Columbia Presbyterian and in her later years a school nurse, have three adult children. Melissa is a Land Preservation Coordinator in eastern Long Island trying to keep development from changing the semi-rural nature of the area. Amanda, an Einstein graduate, is a pediatrician in New Hampshire married to another Einstein graduate, an orthopedic surgeon. John is a neurobiologist in New York married to a pediatrician. When possible, the children and four grandchildren gather for what has become their traditional lobster dinner at their summer home in the North fork of eastern Long Island. One of Al and Marge’s grandchildren is the recipient of a Fulbright Fellowship to teach in Malaysia.

Al’s overall excellence in clinical care, academic productivity, teaching and ability to bring people together is unsurpassed. While widely acclaimed as a leader in the field of pediatric neuromuscular diseases, he has never gotten the credit he deserves because he is such a low-key guy, instinctively downplaying his accomplishments. Until now. With tremendous pride, the Child Neurology Society is recognizing his achievements by bestowing on him the 2018 Child Neurology Society Roger and Mary Brumback Lifetime Achievement Award.

As a clinician, as a writer, and as a researcher, he always keeps in the forefront the needs of his patients. He does not let the rest of us forget for a moment that what we do impacts the lives of individuals. He has kept medicine humane even when few or no treatment options are available to offer to our patients.