Program Operations Manual System (POMS)
TN 56 (05-23)
DI 23022.143 Congenital Myotonic Dystrophy
COMPASSIONATE
ALLOWANCES
INFORMATION
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CONGENITAL MYOTONIC
DYSTROPHY
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ALTERNATE
NAMES
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Steinert’s Disease; Myotonic dystrophy type 1
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DESCRIPTION
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Congenital Myotonic Dystrophy (type 1) is the most severe form of myotonic dystrophy, a rare, inherited neurlogical
disorder caused by a mutation of the DMPK gene. Signs and symptoms are apparent after
birth. These can include severe muscle weakness resulting in respiratory insufficiency,
dysphagia leading to aspiration pneumonia, cardiomyopathy, and failure to thrive.
Developmental delays are common. Later complications may include excessive daytime
sleepiness, intellectual disability, autism, and ADHD. If the child survives to adulthood,
they will start to take on the symptoms commonly seen in adult myotonic dystrophy
type 1 as well.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Congenital myotonic dystrophy is difficult to recognize because there can be multiple
causes of weakness and hypotonia in newborns. The diagnosis can be confirmed through:
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Molecular genetic testing;
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Sometimes-elevated serum CK concentration.
Physical findings: Physical examination shows:
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General muscle weakness, especially of the face and throat muscles;
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Difficult or labored breathing (dyspnea);
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Difficulty swallowing (dysphagia);
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Ineffective nursing due to weak suck;
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Excessive daytime sleepiness;
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Attention deficit hyperactivity disorder (ADHD).
ICD-9: 395.21
ICD-10: G71.11
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PROGRESSION
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For congenital myotonic dystrophy, abnormal muscle weakness and other findings are
present at birth. Progression occurs throughout the child’s lifetime; however, the
rate and severity may vary, even with family members.
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TREATMENT
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Currently there is no cure for this disorder. Treatment is supportive and symptomatic.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical history and physical examination that describes the diagnostic features of
the impairment; and
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Suggested
Listings for
Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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11.13
111.13
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Listing-level severity must be documented.
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Equals
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*Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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