Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Feeding difficulties were assessed in 14 children (age range 2-14 years) with merosin deficient congenital muscular dystrophy, a disease characterised by severe muscle weakness and inability to achieve independent ambulation. Twelve of the 14 children were below the 3rd centile for weight. On questioning, all parents thought their child had difficulty chewing, 12 families modified the diet, and 13 children took at least 30 minutes to complete a meal. On examination the mouth architecture was abnormal in 13 children. On videofluoroscopy only the youngest child (2 years old), had a normal study. The others all had an abnormal oral phase (breakdown and manipulation of food and transfer to oropharynx). Nine had an abnormal pharyngeal phase, with a delayed swallow reflex. Three of these also showed pooling of food in the larynx and three showed frank aspiration. These six cases all had a history of recurrent chest infections. Six of eight children who had pH monitoring also had gastro-oesophageal reflux. As a result of the study five children had a gastrostomy, which stopped the chest infections and improved weight gain. This study shows that children with merosin deficient congenital muscular dystrophy have difficulties at all stages of feeding that progress with age. Appropriate intervention can improve weight gain and reduce chest infections. The severity of the problem has not been previously appreciated in this disease, and the study shows the importance of considering the nutritional status in any child with a primary muscle disorder.
 ...
PMID:Feeding problems in merosin deficient congenital muscular dystrophy. 1033 4

Type 1 myotonic dystrophy (MD) is a rare inherited disease which presents with skeletal muscle weakness and myotonia. Involvement of smooth muscles is also common and mainly manifests in the gastrointestinal tract. We report a case of type 1 MD who presented with dysphagia and was found to have unique esophageal manometry findings. A 57-year-old male patient presented with dysphagia for the last few months. Past medical history was significant for type 1 myotonic muscular dystrophy, gastroesophageal reflux disease, diaphragmatic paralysis, and obstructive sleep apnea. Both his father and brother died in their 50s because of unclear respiratory problems. He was a former smoker and did not drink alcohol. Review of systems was unremarkable. His neurological examination was significant for bilateral facial muscle weakness and mild ptosis. He had atrophy and weakness of the distal upper and lower extremities. Deep tendon reflexes were absent. Upper endoscopy and 24-hour esophageal pH testing were non-diagnostic. Finally, esophageal manometry revealed elevated lower esophageal sphincter (LES) pressure, elevated upper esophageal sphincter (UES) pressure, and very week peristalsis of the esophageal body. Esophageal involvement is common in type 1 MD manifesting with dysfunction of UES, esophageal body, and LES. Manometry usually describes a reduced resting tone of the UES and LES. The patient had elevated LES pressure and week peristalsis of the esophageal body consistent with achalasia. He also had an elevated UES pressure consistent with cricopharyngeal achalasia. This is the opposite of what is expected in type 1 MD.
 ...
PMID:Combined achalasia and cricopharyngeal achalasia in a patient with type 1 myotonic dystrophy: a case report. 3230 42