He presented at age 2 years with problems with walking. These included a waddling gait and a right sided limp, such that he could no longer run with his peers. Over time, the condition progressed to the point that he had difficulties to raise from a chair and was unable to stand from a sitting position on the ground. His father noticed that he could not get up from his bed unassisted. His cognition, vision, language and hearing are entirely normal. His prenatal and newborn history were normal. There is a positive family of siblings with similar findings.
Symptoms / Signs
- Cognition, vision, language and hearing were normal.
- Asymmetric deltoid weakness (4/5 right, 3/5 left), biceps 4+/5, triceps 4-/5, quads 3/5, knee flexors 4/5, knee extensor 4/5, foot dorsiflexion, inversion/eversion 5/5.
- Reduced biceps/triceps reflexes, absent patellar reflexes, plantar flexor response, reduced ideomuscular reflexes, positive (present) Gowers sign, waddling gait, and difficulties with running.
- Plasma CK and aldolase levels were normal, as were liver and thyroid function. However, one affected older brother has high CK levels (double normal).
- Cardiological examination was normal.
- Corticoid and physical therapy
Previously Considered Diagnoses
- Myopathy (Limb-Girdle-Muscular Dystrophy: sarcoglycanopathy)
Genetic Variants of Interest
- WES data analysis ongoing. AR gene variant found and shows segregation with genotyped family members (parents, proband and one sibling). However, the AR gene not a good candidate. Analysis is continuing.
Siblings, age & gender
15 year old affected brother, 17 year old affected brother, 20 year old affected brother, 18 year old unaffected brother, 22 years old likely affected
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M is 10 year old and is in primary school. Despite his condition, he seems to spread positive vibes around him through his energy and his dynamism. Meridié is curious about new things that he doesn’t understand.