Spinal Muscular

Atrophy- Type 1
Case study by: Stacy Cliff

 Review the background, cause, diagnosis and incidence of

Spinal Muscular Atrophy (SMA).
Understand the 4 main types of SMA.

Analyze family/social, clinical and nutritional history.

Evaluate the current alternative nutrition therapy as it relates
to the diagnosis of SMA, its rationale, and appropriateness.

Objectives

Compare and contrast current diet with the DRIs for a

12- month-old and those for other neuromuscular and
musculo-skeletal diseases.
Use the Nutrition Care Process in relation to SMA and this
case study.

Discuss evidence-based literature.

Background
Information:
What is
Spinal
Muscular
Atrophy? 1

SMA is a group of inherited diseases of the motor nerves that

cause muscle weakness and atrophy.
SMA affects muscles throughout the body including: legs,
arms, and muscles used for breathing and coughing.
SMA is a rare disorder affecting ~1 out of every 10,000
individuals worldwide.
Those affected by SMA are grouped into one of 4 types (I, II,
III, IV) based on their highest level of motor function ability.

Batissta V. Cure SMA. Understanding Spinal Muscular Atrophy. http://www.curesma.org/documents/

support--care-documents/understanding-sma.pdf. Accessed October 31, 2014.

 SMA is an autosomal recessive genetic disease.

Background
Information:
What causes
SMA? 1

SMA is caused by a missing or mutated gene known as

survival motor neuron gene 1 (SMN1).
SMN2 modifies the severity

1 out of every 50 people are genetic carriers of the disease

(meaning they carry the mutated gene but do not have SMA).
Usually, both parents have to be carriers of the abnormal
gene and pass this gene on to their child.

Batissta V. Cure SMA. Understanding Spinal Muscular Atrophy. http://www.curesma.org/documents/support--caredocuments/understanding-sma.pdf. Accessed October 31, 2014.

 Type I- Werdnig-Hoffmann Disease

Type II

Background
Information:
Types of SMA
1

Type III- Kugelberg-Welander Disease

Type IV- Adult Onset
Rare forms with different genetic causes
SMA Respiratory Distress
SMA type V- Distal Hereditary Motor Neuropathy
Kennedys Disease

Each type of SMA varies among individual patients- no two

children will be exactly the same.

Batissta V. Cure SMA. Understanding Spinal Muscular Atrophy. http://www.curesma.org/documents/support--caredocuments/understanding-sma.pdf. Accessed October 31, 2014.

It is important to
remember.
- The brains of those affected with SMA are not affected at all! SMA
children have normal cognitive abilities and are usually very intelligent,
therefore should be encouraged to participate in as many age- and
developmentally appropriate activities as possible. Together with
families, health professionals can help these children reach their
upmost potential in whatever they decide to do!

Meet T.M.
Type 1 Spinal Muscular Atrophy

 13-month-old male
Born at 39-weeks gestation in the hospital parking lot

Personal
History

Family History: Father had an uncle and his mother had a

cousin w/ Type 1 SMA, both died in infancy
Lives with father, mother and 3-year-old sister
Mother is a homemaker, father is a soldier
He was batman for Halloween and had his own batmobile

 At 3-day newborn checkup no abnormalities were noted,

muscle tone and strength were normal.

2-week well baby- gaining 38g per day. No abnormalities

detected.

Past Medical
History

2.5 month well baby- Parents concerned about lack of head

control. Muscle tone was abnormal (arms and legs very limpdecreased tone). Diagnosed with delayed milestones gross
motor and referred to Pediatric Developmental Clinic.
3 months- Physical Therapy- diagnosed w/ Torticollis and
poor coordination.
4-months- PT appointment- mom voiced concern about
developmental delays and want to R/O genetic disorder.

 4.5 months- Admitted to WAMC ER for breathing problems

transferred to CFVMC then airlifted to Duke due to
pneumonia, respiratory distress, and lung failure.

Past
Medical
History

Admitted 1 March- 12 May at Duke- (6.5 months old at time of

discharge) Neurology consult resulted in diagnosis of Type 1
SMA on 3 March, with a genetic test also demonstrating Type
1 SMA.

 At Duke, during admission, T had:

Past Surgical
History

Tracheostomy related to respiratory issues.

G-Tube (due to problems with swallowing reflex) and Nissen
fundoplication.

 Receives home nursing 12 hours a day 10:30pm-10:30am.

Tricare insurance

Current
Medical
Information

Receives OT, PT and play therapy via IFSP

Goes to Duke for ENT, Pulmonology, Pediatric surgery during
a two day span- Family stays at Ronald McDonald house.
No organized swallow, requires suctioning to manage oral
secretions.
Uses a portable home ventilator.

 Birth Weight/ Length = 2915 grams (6 pounds 7 ounces), 47.2

cm
Current Weight/ Length = 8.732 kg (18 pounds 2 oz), 74.9 cm

Anthropometrics

Current head circumference = 45 cm

Ts current weight for length is between the 25th and 50th

%tiles on the 2009 CDC/WHO growth charts2.

WHO Child Growth Standards. Web site. www.who.int/childgrowth/en. Accessed

Novemeber 1, 2014.

Anthropometrics
: Growth Charts

HEIGHT (CM) FOR AGE (MONTHS)

RED LINE DEPICTS HT FOR AGE ALONG THE 50TH %TILE
BROWN LINE DEPICTS ACTUAL HT FOR AGE
80
76.2
74

75

75.5
74.9

71.12

HEIGHT (CM)

70

73.5

65

63

59.9

60

62.5
59.5

55

53.34
49.5

50

47.2

50.1

45
40
0

6
7
AGE (MONTHS)

10

11

12

13

22 October 2014
Iron = 37 (L) 50-160 units/L

Clinical
Findings:
Biochemical
and Lab
results

Ferritin = 20 (L) 30-40 ng/mL

MCH = 23.6 (L)
MCHC = 30.8 (L) Neither very low
Bilirubin = .1 (L) .2-1.0

Creatinine = .17 (L) .2-.4

CO2 = 17 (L) 21-34
Alk Phos = 942 (H) 85-235 in children under 2
Protein = 6.1 (L) 6.2-8.3
Anion Gap = 22 (H) 10-20

Nutrition
Assessment:
Drug/Nutrient
Interactions 3

Drug

Anorexia

N/V/D

Constipation

Ferrous Sulfate 1mL

BID

Cholecalciferol

Multivitamin with Iron

Levalbuterol HCL

Triamcinolone
Acetonide

Pronsky ZM, Crowe JP. Food and Medication Interactions. 17 ed. Birchrunville, PA: Food-Medication Interactions Publishing
Co; 2012.

 Inability to chew or swallow- resulting G-tube

No head control

Hair loss

Nutrition
Assessment:
Nutrition Status

Ridged, brittle fingernails

Low serum Fe, and Ferritin
Low serum Protein
Low serum Creatinine
No physical activity r/t inability to walk or move on his own
Bowel movements normal and regular
Mucous secretions requiring frequent suctioning

Presentation

Challenges

Difficulty chewing and/or swallowing & choking issues.

Mouth opening/bite, tongue and head control/ positioning, facial muscle

weakness, fatigue in chewing muscles.

Small amts of food or liquid enter the trachea instead of the

esophagus.

Stomach contents flow back into the esophagus, into lungs = PNA and
difficulty breathing.

Abdominal
prob/
discomfort

Diarrhea, bloating, vomiting, bad breath, regurgitation of feeds,

and/or abdominal distention.

May contribute to undernutrition

Under-nutrition

Difficulty growing & gaining weight -common with Type I maybe

in Type II.

Difficulty with wound healing. Tendency for pressure sores.

Commonly seen in those with milder Type II and Type III. Could
increase burden of care and/or decrease the QOL

Increased pain & associated complications with hips and back.

Increased risk of diabetes and HTN.

Most common with Type I, followed by Type II, less common with
Type III.

Increased danger of aspiration and pain

R/T reduced fiber intake &/or inadequate fluid intake.

Abnormal gastrointestinal motility

Yeast
overgrowth

Bodys bacterial flora unbalanced. Presentations include: thrush;

orange tinge in eyebrows, hair and around g-tube; cheesy smell
on hands and feet.

Can contribute to sweating, bloating and constipation.

Low/ high blood

sugar

Present in some who have SMA Type I, with prolonged fasting.

Type of issue
Feeding issues
Aspiration

Obesity/
Over-nutrition
GERD
Constipation

Blood sugar is an immediate source of energy. If low, the body breaks

down muscles to get energy.

Nutrition
History: Diet
History

Exclusively breastfed at the breast for the first 4 months. The

following 3 months he was exclusively fed breast milk thru his
G-tube.
After hospital stay- bolus feeds @ 115 mL/hr (not tolerating
well)
MOP reports he is tired and has further loss of his ability to
move, she begins to research the Amino Acid diet.

 7 months old- First attempt using the AA diet. Changes from

bolus to continuous feeds of 20 oz. breast milk, 4Tbs Tolerex
and 250 mLs H2O.

Nutrition
History: Diet
History

(Tolerex is an elemental amino acid tube feed formula providing

30 kcals an ounce, it is very low in fat, lactose and gluten free
and low residue, it is 86% free water)
Tolerating well- added juice and Pedialyte- prevents
constipation, provides extra kcals, and replenishes
electrolytes.
MOP- credits Tolerex with vast improvement in T.M.s health.
She begins to notice that he is regaining abilities she thought
he had lost.

Nutrition
Assessment:
Nutrition
Knowledge

MOPs nutrition knowledge is above average, as she has

spent countless hours educating herself on the nutritional
implications of T.M.s condition.
Vocalizes uncertainty of dietitians and their knowledge of
SMA
Amino Acid Diet4

Bodzo M. SMA Support Inc. What is the Amino Acid Diet? www.smasupport.com/diet.htm. Accessed November 1, 2014.

 No evidenced based research to back up claims of AA diet

Current Diet:
The Amino
Acid Diet 4

Mary Bodzo who has been developing the AA diet for 20

years, is closely followed by many families dealing with SMA.
Over age 1: 60-75cal/kg/day
1-1.5g/kg/24hrs. As children grow older and weight increases,
protein intake will fall below 1g/kg.
10-20% of calories from fat- Keeping fat % of calories low will
often alleviate g.i. distress.

Bodzo M. SMA Support Inc. What is the Amino Acid Diet? www.smasupport.com/diet.htm. Accessed November 1, 2014.

Current Diet:
The Amino
Acid Diet

T.M.s Amino Acid Diet:

150z. Breast milk
8 Tbs. Tolerex
11 oz. water
4 oz. white grape juice
4 oz. unflavored Pedialyte
620 kcals (71 kcals/kg)
9.46 g/protein (1.2 g/kg)
28% of kcals from fat

Ms. Bodzos Rationale for the AA

Diet

Current Diet:
The Amino
Acid Diet 4

The free form amino acids in Tolerex, are in balanced

amounts, and are less likely to trigger immune responses
such as inflammation. They are easily digested and quickly
absorbed into the bloodstream. When given frequently, in low
amounts, these amino acids provide a steady source of
accessible energy and may help prevent muscle breakdown.
When protein and fat are replaced with free form amino acids
and appropriately reduced amounts of fat, children
with SMA experience improved respiratory health and fewer
metabolic complications during illness. Most children with
Type 1 SMA have an immediate reduction in airway
secretions. Constipation, is more manageable or even
eliminated. Some children have improvement in strength and
regained function.
Bodzo M. SMA Support Inc. What is the Amino Acid Diet? www.smasupport.com/diet.htm. Accessed November
1, 2014.

Current diet:
The Amino
Acid Diet

Discussion
Calories
Protein
Fats
Micronutrients

Diet
Comparison:
DRIs for 13
month old,
and Ts intake
with AA diet-5

13 month-old
Energy = 102 kcals/kg = 890 kcals (-250 kcals)
Protein = 1.2 g/protein/kg = 10.4 grams (Very similar)
Fat = 30-40% of kcals = 29 - 40 grams (-9 to -20.0 grams)

CHO = 45-65% = 100 144 grams (107 g falls within range)

Ages 1-3 increased risk of Iron deficiency anemia
Zinc, Calcium, Vitamin D

Escott-Stump S. Normal Life Stages. In Nutrition and diagnosis-related care. 7th ed. Baltimore MD: Lippincott Williams & Wilkins;2012:2237.

 2-3 year-old with Duchenne muscular dystrophy

Energy = Requirements may be up to 30% lower

Diet
Comparison:
Muscular
Dystrophy
and
Spinal cord
injury 6

= 600 kcals ( Equivalent)

Protein, Fat, CHO = No specific recommendations, same as

that of a healthy child (DRI)
Special considerations = adequate fiber and fluid, Ca++,
Vitamin D

Spinal cord injury resulting in paraplegia or quadriplegia

Energy= Indirect calorimetry, could be >20% of normal
recommendations
Typically .8 g/kg/day if N balance is optimum

Ensure adequate fat and CHO intake to spare muscle

Monitor nutrition related lab values
Escott-Stump S. Muscuo-skeletal disorders. In Nutrition and diagnosis-related care. 7th ed. Baltimore MD: Lippincott Williams &
Wilkins;2012:652-655.

 Pediatric dietitian says 75% of normal DRI for kcals is

reasonable to prevent obesity and provide adequate energy
in pts with very limited mobility. This equates to 667 kcals
which is very close to current intake.
Krauss, and Escott-Stump also recommend similar reductions
in kcals for neuromuscular and musculo-skeletal diseases.

Nutrition
Assessment:
Appropriateness

With frequent nutrition assessments to evaluate weight gains

or losses, muscle wasting, nutrition related lab values, etc.
intake could be validated in individual cases.
With a terminal illness, the need to feel like you are doing
something that is beneficial for your child might alleviate
parents feelings of helplessness.

When faced with this situation, it is important to see where

the parent is coming from, what are their needs? Maybe they
need validation that they are good parents and doing
everything they can to help their child.

 Inadequate mineral intake of Iron

Altered nutrition-related lab values (iron, ferritin, MCH,
MCHC)
related to lack of iron food sources in daily diet as evidenced
by low serum iron and ferritin levels.
Food and nutrition related knowledge deficit

PES
Statements 7

related to lack of evidence based research concerning

nutritional recommendations as evidenced by adherence to
Amino Acid diet.
Swallowing difficulty
Chewing difficulty
related to progression of Type 1 SMA as evidenced by PEG
and enteral feeds.

AND. International Dietetics and Nutritional Terminology (Idnt) Reference Manual, Standard Language for the Nutrition Care Process.
ACADEMY OF NUTRITION & DIETETICS; 2012.

 Recommend Iron supplementation

Encourage and issue referrals for lab work when deemed
necessary to evaluate diet modifications and then provide--

Nutrition related-lab result interpretation and - Make recommendations when deficiencies are noted and
medically appropriate

Nutrition
Intervention 7

Collaboration with and referral to other health professionals to

create personalized and specialized plans of care.
Help parents in appeal process related to Tricare denial of
coverage for human milk from milk bank at Wake Med in
Raleigh
Encourage frequent visits to Nutrition Care Division and
pediatric dietitian to monitor for nutrient deficiencies
Provide current research and interpretation of research
pertaining to the nutrition/SMA relationship.
AND. International Dietetics and Nutritional Terminology (Idnt) Reference Manual, Standard Language for the Nutrition Care Process.
ACADEMY OF NUTRITION & DIETETICS; 2012.

Nutrition
Monitoring
and
Evaluations 7

Growth chart velocity

Lab values
Overall appearance

AND. International Dietetics and Nutritional Terminology (Idnt) Reference Manual, Standard Language for the Nutrition Care Process.
ACADEMY OF NUTRITION & DIETETICS; 2012.

Observational study of caloric

and nutrient Intake, bone density,
and body composition in infants
and children with Spinal
Muscular Atrophy type 1 8
Authors: Poruk K, Davis R, Smart A, Chisum B, LaSalle B, Chan G, et.al.
Journal: Neuromuscular Disorders

Introduction

The study aims to provide an overview of caloric,

macronutrient and micronutrient intakes, body composition
and bone mineral density in subjects with SMA type 1, to
assess the suitability of the use of standardized growth
charts, and to identify and highlight areas where nutritional
research is needed.

 3 day dietary intake records for 47 SMA type 1 pts over 156
visits.
25 males, 22 females

Methods:

1 month- 13 years (median 9.8 months)

These records were then compared to DRIs for gender and

age along with anthropometric measures , and DEXA data.

 Using standard growth curves, 12 pts met criteria for FTT with
wt for age less than the 3rd percentile, 8 met the criteria based
on wt for ht.

Results:

DEXA analysis demonstrated that SMA type 1 children have

higher fat mass and lower fat free mass than healthy peers.

DEXA and bone mineral analysis indicates a strong

coorelation with Mg++ intake and bone mineral density.
Average caloric intake for 1-3 year olds was 68.8 +/- kcals/kg
(or 67%) of peers recommended intake.

Discussion

Children with SMA type 1 may have lower calorie

requirements than healthy age-matched peers, increasing the
risk for over and undernourished states and deficiencies.

Standardized growth charts may overestimate FTT status in

SMA type 1.

 This study demonstrates that intake of both Ca++ and Mg++

is independently and significantly predictive of increased
BMD.

Discussion

A substantial proportion of this cohort had inadequate intakes

of bone-related nutrients.
Multivitamin supplementation to meet DRIs should be
considered.
Children with SMA type 1 should be referred to a dietitian for
assessment as early as possible after diagnosis and on a
regular basis.

 Increasing % of SMA type 1 children in this cohort w/ longterm survival (>18 months) were using elemental formulas,
clinical research is needed to determine the potential
benefits of elemental formulas.
Clinically reported difficulties with fat or formula intolerance
are increasingly prevalent w/ disease progression and may
or may not be related to metabolic status or GI dysfunction.

Conclusion:

Optimal % and type of fat calories required for optimal

growth and optimal motor development needs to be
determined.
Specific growth chart for children with SMA 1 needs to be
developed
Core set of evidence based guidelines to enhance nutritional
assessment and monitoring would help improve survival and
QOL

Nutritional Practices at a
Glance: SMA Type 1
Nutrition Survey
9
Findings
Authors: Davis R, Godshall B, Seffrood E, Marcus M, LaSalle B, Wong B,
et al.
Journal of Child Neurology

Introduction
and Methods

Proactive nutrition management for children with SMA type 1

can provide insight into improved care. The aim of this survey
was to understand the role of nutrition in the management of
children with SMA type 1, provide a current representation of
nutritional practices among families, and provide direction for
future research.

Observational study- 29 questions related to nutritional and

medical history.
Participants recruited through SMA websites, flyers at the
Families of SMA national meeting, and via referring RDs.

 Results and Discussion:

44 respondents- age 5 months to 16 years, mean age was 5.
21 males 22 females 1 unreported

Nutritional
Practices at a
Glance: SMA
Type 1
Nutrition
Survey
Findings 9

8 had tracheostomy
43 clinically classified as SMA type 1. One could achieve sitting unsupported for a short
while due to a study drug.
43 depended on feeding tube, only 1 (6 months old) eating orally
23 reported formula tolerance issues
GERD reported in 21, however 23 of 44 subjects were on medications for reflux and 8
on meds for gut motility

31 had Nissen fundoplication

33 were breastfed at some point during infancy
Dietary changes were guided most often by the respondent (17 of 44) or a RD (15 of
44).
29 diets reviewed every 6 months, 8 quarterly, 3 more than once annually, 3 annually, 1
unreported

Routine labs in 28 subjects. 9 reported low glucose, 14 low electrolytes, 11 recurrent

yeast infections
28 reported hourly suction use, 44 used BiPap, most over 12 hours daily, 40 used cough
assist

 Results and Discussion

Nutritional
Practices at a
Glance: SMA
Type 1
Nutrition
Survey
Findings 9

The majority of subjects in this survey were using elemental

formulas.
In clinical practice, longer surviving children predominately are
receiving elemental nutrition as their primary source of nutrients
and energy.
The easier to digest protein and low fat content of these
formulas may help with gastric motility, reduce reflux, and reduce
the stress that accompanies feeds in this population.

The use of elemental diets is increasing by word of mouth

Respondents list a number of potential benefits and observed
improvements after switching to an elemental or semi-elemental
formula.
30 subjects were on elemental formula, 15 reported using a RD
to guide childs diet
This study strongly suggests the referral to a RD knowledgeable
about SMA.

Pros and Cons

Nutritional
Practices at a
Glance: SMA
Type 1
Nutrition
Survey
Findings 9

- These survey results may be more reflective of caregivers

who are more proactive toward nutrition, so it may not
generalize to the entire SMA type 1 community.
- Usually nutrition is addressed after respiratory issues have
been dealt with.
- Formulas used by caregivers were supplemented in many
ways, making conclusions about which constituents are
beneficial more difficult.
+Survey was convenient for families with heavy
responsibilities

+ Highlights the importance of using a RD to implement MNT

Nutritional
Practices at a
Glance: SMA
Type 1
Nutrition
Survey
Findings 9

Conclusions:
Creating evidence based nutrition guidelines will increase the
use of RDs, and will allow additional info to be obtained about
risks and benefits involved in the use of these formulas.

Future nutrition and formula studies can advance the

understanding of how to manage associated symptoms that
impair QOL and compromised nutrition.

A Review of Nurtition
In Duchenne
10
Muscular Dystrophy
Authors: Davidson ZE, Truby H.
Journal of Human Nutrition and Dietetics

 DMD affects boys only. Recessive x linked genetic disorder.

Body is unable to make the protein dystrophin which is
essential for muscle contraction.
The absence of dystrophin expression leads to progressive
muscle weakness, with chronic degeneration of muscle and
replacement of muscle with fat and endomysial fibrosis.

Introduction:

Nutritional issues have taken a backseat in the past- as life

expectancy increases with improved medical management,
they are moving to the forefront.
No consensus on nutritional management so, RDs are forced
to tread lightly
The purpose of this literature review is to provide RDs with
needed clinical nutrition guidance.

 Literature search in MEDLINE using specific parameters and

Cochrane Library using the term Duchenne muscular
dystrophy.

Methods

1690 articles included in this review

Key themes were identified. Practice points were agreed

upon and were assigned a level of evidence and grade of
recommendation using the Oxford Centre for Evidence-based
Medicine criteria. Grade A the highest, Grade D the lowest.

 Nutrition requirements:
Monitor wt to guide energy prescription (grade D)
Ensure adequate intake of micronutrients as per dietary
reference values (D)

Results and
Discussion

Suppl vit D (1000 IU daily), and Ca++ (750 mg daily)

especially in those receiving steroid therapy. (D)

Monitor serum 23-hydroxyvitamin D (D)

BMI as a screen for obesity is not accurate in boys with DMD
(C)
Body composition is characterized by a decreased lean body
mass and increased intramuscular fat mass (C)

 Review revealed consistent limitations across all areas, with

little high quality research into nutrition and DMD.
Small sample sizes are common

Conclusion:

Randomized controlled studies are scarce

Many recommendations are based on extrapolations from
non DMD studies and expert opinions.
Given lack of research, expert opinion based on clinical
expertise and fundamental nutrition principles may comprise
the strongest and most accurate evidence available.

Bibliography

1.

Batissta V. Cure SMA. Understanding Spinal Muscular Atrophy.

http://www.curesma.org/documents/support--care-documents/understanding-sma.pdf.
Accessed October 31, 2014.

2.

WHO Child Growth Standards. Web site. www.who.int/childgrowth/en. Accessed Novemeber

1, 2014.

3.

Pronsky ZM, Crowe JP. Food and Medication Interactions. 17 ed. Birchrunville, PA: FoodMedication Interactions Publishing Co; 2012.

4.

Bodzo M. SMA Support Inc. What is the Amino Acid Diet? www.smasupport.com/diet.htm.
Accessed November 1, 2014.

5.

Escott-Stump S. Normal Life Stages. In Nutrition and diagnosis-related care. 7th ed. Baltimore
MD: Lippincott Williams & Wilkins;2012:22-37.

6.

Escott-Stump S. Musculo-skeletal disorders. In Nutrition and diagnosis-related care. 7th ed.

Baltimore MD: Lippincott Williams & Wilkins;2012:652-655.

7.

AND. International Dietetics and Nutritional Terminology (Idnt) Reference Manual, Standard
Language for the Nutrition Care Process. ACADEMY OF NUTRITION & DIETETICS; 2012.

8.

Poruk KE, Davis RH, Smart AL, et al. Observational study of caloric and nutrient intake, bone
density, and body composition in infants and children with spinal muscular atrophy type I.
Neuromuscul Disord. 2012;22(11):966-73.

9.

Davis RH, Godshall BJ, Seffrood E, et al. Nutritional practices at a glance: spinal muscular
atrophy type I nutrition survey findings. J Child Neurol. 2014;29(11):1467-72.

10. Davidson ZE, Truby H. A review of nutrition in Duchenne muscular dystrophy. J Hum Nutr
Diet. 2009;22(5):383-93