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Participant 018

progressive neuromuscular condition
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Female, age 22, with a progressive neuromuscular condition involving weakness and restrictive lung disease

Date of Report

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.

Symptoms / Signs
  • 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)
Current Treatments
  • Nasal intermittent positive pressure ventilation- breathing difficulties
Prior Treatments
  • Acetazolamide- myopathy
  • Surgical placement of rods- scoliosis
Considered treatments
Previously Considered Diagnoses
  • Chromosomal disorder
  • Metabolic condition
  • Multi-minicore disease
  • Myasthenia gravis
  • Myotonic dystrophy
  • Myotubular myopathy
  • Prader-Willi syndrome
  • Velocardiofacial syndrome
Other Photographs
Genetic Variants of Interest

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