Apr 10, 2017

The patient was born at 41.5 weeks and immediately had breathing difficulties. She was in the neonatal intensive care unit (NICU) for 5 months and required mechanical ventilation, a tracheostomy, Nissen fundoplication, and a gastrostomy tube (g-tube). The tracheostomy and g-tube were removed at age 4 and 5 years, respectively.

The patient was born with a high-arched palate and submucosal cleft, split (bifid) uvula, and low muscle tone (hypotonia).

The patient’s symptoms were fairly stable until adolescence when she was diagnosed with a sideways curvature of her spine (scoliosis) and restrictive lung disease. Since then, the weakness in her legs has gotten worse. She currently uses a walker and scooter to get around. She has increased weakness in her arms and has been falling more frequently.

• Muscle weakness
• Low muscle tone (muscular hypotonia)
• Exercise-induced muscle fatigue
• Muscle fiber disease and death (myopathy and muscle fiber necrosis)
• Increased muscle tissue (endomysial connective tissue)
• Waddling walk (gait)
• High stepping (steppage gait)
• Fatigue
• Seizures
• Sleep apnea (obstructive)
• Sideways curvature of the spine (scoliosis)
• Exaggerated inward curve of the spine (hyperlordosis)
• Reduced function of reflexes (hyporeflexia)
• Low body weight
• Short stature
• Narrow and long face
• Decreased facial expression
• Wide nose (prominent nasal bridge)
• Chronic ear infections (otitis media)
• Abnormal eardrum (abnormality of the tympanic membrane)
• Hearing impairment (mild conductive hearing impairment)
• Slowed speech (dysarthria)
• Speech articulation difficulties
• High palate
• Submucous cleft hard palate
• Split uvula (bifid uvula)
• Teeth misalignment (dental malocclusion and anterior open bite)
• Narrow mouth
• Recessed lower jaw (retrognathia)
• Underdeveloped bones in lower jaw (hypoplasia of the maxilla)
• Long neck
• Chronic lung disease
• Excess fluid around the lung (pleural effusion)
• Breathing difficulties (hypoventilation)
• Acid reflux (gastroesophageal reflux)
• Delayed movement of food from stomach to small intestine (gastroparesis)
• Tissue bulge through the abdominal wall (ventral hernia)
• Inflammation of the lining of the abdominal wall (peritonitis)
• Solid or fluid filled pocket on the ovary (ovarian cyst)
• Poor wound healing
• Seasonal allergies (allergic rhinitis)

• Nasal intermittent positive pressure ventilation- breathing difficulties

• Acetazolamide- myopathy
• Surgical placement of rods- scoliosis