Table 4.

Treatment of Manifestations in Individuals with Congenital Muscular Dystrophy Type 1A

Manifestation/ConcernTreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Poor weight gain /
FTT 		Gastroenterology / nutrition / feeding team incl speech-language specialists
  • Low threshold for radiographic swallowing study if evidence of dysphagia
  • Gastrostomy tube placement may be required for persistent feeding issues.
Epilepsy Routine mgmt of seizures by experienced pediatric neurologistWhile seizures are generally well-controlled w/routine ASM, refractory seizures in those w/cortical dysplasia may require polytherapy.
Musculoskeletal Multidisciplinary neuromuscular clinic incl orthopedics, physical medicine, OT/PTTo focus on:
  • Maintenance of function & mobility
  • Prevention or treatment of joint & neck contractures & spine deformities
  • Activities to improve respiratory function
  • Adequate seating & wheelchair support
  • Appropriate conservation vs surgical management of spine, hips, & ankles
Respiratory Pulmonologist
  • Goals are clearance of secretions & assisted ventilation as needed to maintain oxygenation & avoid hypercapnia.
  • Aggressive treatment of respiratory infections
  • Consider positive-pressure ventilation & tracheostomy in individuals w/severe bulbar involvement & chronic aspiration & pneumonia.
Psychiatric Referral to psychologist/
psychiatrist		If concerns about mood, behavior
Cardiac By pediatric cardiologistEarly detection & treatment of myocardial dysfunction
Abnormal vision
&/or strabismus 		Standard treatment(s) per ophthalmologist

ASM = anti-seizure medication; DD = developmental delay; FTT = failure to thrive; ID = intellectual disability; OT = occupational therapist; PT = physical therapist

From: LAMA2 Muscular Dystrophy

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