What are the signs and symptoms of congenital muscular dystrophy (CMD) with familial junctional epidermolysis bullosa?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Since first being described in the 1970s, several more reports have described patients with epidermolysisbullosa and muscular dystrophy. [2]

Epidermolysisbullosa can be severe, even resulting in death and presents with severe blistering often secondary to trauma or heat.

Other skin findings can include nail dystrophy and scalp alopecia.

Muscle weakness is proximal, progressive often leading to wheelchair use by the second decade and may correlate with residual plectin function.

Myasthenic syndrome has also been described with ptosis, ophthamoplegia and facial weakness and may respond to pyridostigmine. [13]

Other systemic features include growth retardation, anemia, laryngeal webs, tooth decay, pyloric atresia, infantile respiratory insufficiency, and cardiomyopathy.

In some cases, skin manifestations are mild and may not cause significant disability. Presentation may then be as a late onset (20-40 y) muscular dystrophy. [14]

An LGMD syndrome without epidermolysisbullosa has been described as presenting in early childhood with delayed walking. Proximal weakness eventually progresses and results in loss of ambulation. [15]

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