What are the signs and symptoms of Fukuyama congenital muscular dystrophy (CMD)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

Patients often present in utero with poor fetal movements.

Weak sucking, lack of head control, and a weak mouth are noted in the neonatal period.

At age 2-8 years, most patients can stand or walk a few steps, but patients with severe disease may be able to sit only with support.

Progressive weakness and respiratory failure ensue, with death usually occurring in the mid teens. However, death can occur as late as the mid-20s or as early as age 2 years.

In most patients, cardiac disease develops after age 10 years, resulting in dilated cardiomyopathy and congestive heart failure.

Mild cases have abnormal eye movements, poor pursuits, and strabismus.

Severe cases may cause retinal detachment, microphthalmos, cataracts, hyperopia, or severe myopia.

Cerebral changes are always present.

  • Type II lissencephaly(cobblestone lissencephaly) is the characteristic finding in this disease, as in all other glycosyltransferase deficiencies.

  • Abnormalities range from cobblestone polymicrogyria and/or pachygyria to complete agyria due to neuronal migration abnormalities.

  • Dysplasia of the pyramidal tracts is common.

  • Ventricular dilation, if present, is mild.

  • Delayed myelination is noted on MRI.

  • Cerebellar cysts are common.

  • Seizures occur in about 50% of patients.

  • Mental retardation is present, and, in severe cases, patients may only have rudimentary language. In a few cases, very mild mental retardation is present. [19]

One report found 3 children from 2 families with a limb girdle phenotype (LGMD2M) and a mutation in fukutin. [20] Onset was before 1 year with hypotonia. Deterioration occurred with febrile illness and there was improvement with corticosteroids. Intelligence and brain MRI were normal.

Another report found 6 patients in 4 families with dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence. [21] Cardiac symptoms began in the second to fifth decade, followed by mild proximal weakness.


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