Adult Spinal Muscular Atrophy (SMA) Program

Overview

At Massachusetts General Hospital, we provide comprehensive care, tailored to the unique needs of adults living with spinal muscular atrophy. Our multidisciplinary neurology team is committed to improving patients’ quality of life through cutting-edge treatments, personalized care plans, and innovative research.

Why Choose Mass General for Adult Spinal Muscular Atrophy Care

• Expert care team: Our spinal muscular atrophy program brings together specialists from diverse fields to address the complexities of spinal muscular atrophy. During clinical visits, patients are cared for by a core team that includes neurology providers, nurses, physical therapists, and speech language pathologists.
• Multidisciplinary care: Additionally, we offer in-person and virtual consultations with experts from other specialties, including endocrinology, gastroenterology, genetic counseling, interventional radiology, nutrition, obstetrics and gynecology, occupational therapy, orthopedics, pulmonology, respiratory therapy, and urology.
• Patient-centered approach: We prioritize open communication and involve patients and their families in every step of care planning so that treatments align with their preferences and values.
• Personalized treatment plans: Each patient receives an individualized care strategy tailored to their unique symptoms, needs, and goals, addressing every aspect of their health.
• Advanced therapies: Our clinic provides access to the latest disease-modifying treatments, including: Risdiplam (Evrysdi) and Nusinersen (Spinraza).
• Supportive services: We offer resources and services to help adults navigate the challenges of living with spinal muscular atrophy, from insurance support to community connections.
• Insurance navigation: Our dedicated team streamlines prior authorizations and manages insurance requirements, minimizing delays in accessing essential medications and therapies.
• Research opportunities: Patients at our clinic benefit from participation in research opportunities, both within Mass General and through partnering institutions.

What Is Spinal Muscular Atrophy?

Spinal muscular atrophy is a genetic condition that affects motor neurons which control muscle movement and strength. Over time, these neurons in the brain stem and spinal cord degenerate, leading to progressive muscle weakness and atrophy.

What causes spinal muscular atrophy?

Spinal muscular atrophy is caused by mutations or deletions in the SMN1 (Survival Motor Neuron 1) gene, which produces SMN protein. This protein is necessary for the survival and function of motor neurons. Without enough functional SMN protein, motor neurons gradually degenerate, leading to muscle weakness and atrophy.

Spinal muscular atrophy is inherited in an autosomal recessive pattern, meaning both parents must carry the gene mutation for their child to inherit the condition.

People with spinal muscular atrophy also have a second gene, SMN2 (Survival Motor Neuron 2), which produces a small amount of SMN protein. The number of SMN2 copies a person has can affect the severity of symptoms. Generally, individuals with more SMN2 copies experience a milder disease course.

Spinal Muscular Atrophy Types

Spinal muscular atrophy is classified into four types based on age of onset and motor milestones reached:

• Type I​: Diagnosed in infants within the first six months of life. Infants with Type I SMA often have trouble sitting up and controlling head movements.
• Type II: Symptoms usually appear between 6 and 18 months. Individuals with this type can sit on their own but may need help standing or walking.
• Type III​: Symptoms begin after 18 months of age. Individuals with this type can walk independently but often develop progressive muscle weakness and fatigue as they age.
• Type IV: The mildest form, with symptoms starting in adulthood. People with Type IV generally maintain the ability to walk independently throughout their lives.

Spinal Muscular Atrophy Symptoms

Spinal muscular atrophy symptoms vary but can include:

• Muscle weakness in the arms and legs
• Limited mobility
• Difficulty with speech and swallowing
• Respiratory insufficiency
• Scoliosis
• Joint contractures

Spinal Muscular Atrophy Diagnosis

A spinal muscular atrophy diagnosis involves clinical evaluation, family history, and genetic testing. Key diagnostic steps include:

• Clinical assessment: Evaluating muscle strength, reflexes, and developmental milestones.
• Genetic testing: Identifying SMN1 mutations and determining SMN2 copy numbers.
• Tests to rule out other conditions:
• Electromyography (EMG): Measures electrical activity in muscles to assess motor neuron function.
• Imaging: Produces detailed visuals of body structures.
• Muscle biopsy: Examines muscle tissue under a microscope.
• Other laboratory tests

Spinal Muscular Atrophy Treatment

There are multiple FDA-approved disease modifying treatments available to individuals living with spinal muscular atrophy. Effective spinal muscular atrophy treatment involves early intervention and a multidisciplinary approach to improve outcomes and quality of life.

• Disease-modifying therapy: FDA-approved treatments like Risdiplam (Evrysdi) and Nusinersen (Spinraza) enhance SMN protein production and improve motor function. Our clinic offers expert counseling on these medications.
• Physical therapy and occupational therapy: These therapies help maintain mobility, strength, range of motion, and daily functioning. We also provide guidance on durable medical equipment to support independence.
• Supportive care: Includes respiratory support, nutritional management, and addressing specific symptoms to enhance overall well-being.

Meet Our Team

We take a multidisciplinary approach to patient care by bringing together specialists from various fields to comprehensively address the unique needs of adults living with spinal muscular atrophy. This collaborative model improves patient outcomes, enhances quality of life, and ensures every aspect of a patient’s health is thoughtfully and effectively managed.

Physicians and Nurse Practitioners

• Doreen Ho, MD
• Jennifer Scalia, NP

Registered Nurses

• Kiersten Pease, RN

Physical Therapists

• Amy Swartz Ellrodt, PT, DPT
• Kendall Carney, PT, DPT, NCS
• Caroline Pisinski, PT, DPT, NCS

Pulmonary Care

• Kate Dudley, MD, RRT
• Christopher Piccuito, RRT
• Melissa Gormally, RRT

Speech Language Pathologists

• Stacey Sullivan, MS, CCC-SLP
• Melanie Kraus, MD, CCC-SLP

Genetic Counseling

• Jin Yun (Helen) Chen

Clinical Liaisons and Research Coordinators

• Sydney Hall
• Caitlin Thomas
• Kermarie Silva

Research Opportunities

For additional information about these studies or to inquire about participation, please reach out to the listed contacts.

Biomarker Studies and Contacts

• Intermuscular Coherence: rfreedman3@mgh.harvard.edu
• LAB PALS: mgh_labpals_study@mgh.org, ichang2@mgh.harvard.edu, cethomas@mgb.org or cdwyer6@mgh.harvard.edu

Observational Studies and Contacts

• New Patient Questionnaire: shall42@mgh.harvard.edu or cethomas@mgb.org
• WeSMA: shall42@mgh.harvard.edu or cethomas@mgb.org