Table 2.
Summary of clinical manifestations observed in patients with mutations in DES, MYOT or ZASP, and patients in which no mutation has been identified.
| Mutated gene
|
||||
|---|---|---|---|---|
| DES | MYOT | ZASP | Unknown | |
| Number of families | 11 | 18 | 3 | 3 |
| Inheritance | ||||
| AD | 6 | 9 | 3 | 1 |
| AR | 1 | 0 | 0 | 0 |
| Sporadica | 4 | 9 | 0 | 2 |
| Number of studied patients | 18 | 24 | 7 | 4 |
| Onset age, mean (yrs) | 28 | 58 | 56 | 56 |
| Standard deviation | 10.1 | 8.7 | 7.1 | 12.2 |
| Gender | ||||
| Male | 8 | 13 | 3 | 2 |
| Female | 10 | 11 | 4 | 2 |
| Initial symptoms | ||||
| Distal LL | 8 | 19 | 6 | 3 |
| Proximal LL | 0 | 3 | 1 | 1 |
| Distal and proximal | 2 | 2 | 0 | 0 |
| Cardiopathy | 8 | 0 | 0 | 0 |
| Advanced illness | ||||
| Distal LL alone | 0 | 4 | 0 | 0 |
| Distal and proximal 4 limbs | 18 | 19 | 4 | 4 |
| Neck/trunk weakness | 7 | 1 | 0 | 0 |
| Facial weakness | 6 | 0 | 1 | 0 |
| Dysphagia | 7 | 2 | 0 | 0 |
| Myalgia/stiffness | 1 | 11 | 2 | 0 |
| Muscle atrophy | 11 | 7 | 5 | 2 |
| Muscle hypertrophy | 0 | 7 | 0 | 0 |
| Respiratory weakness | 9 | 3 | 0 | 1 |
| Neuropathy | 0 | 1 | 0 | 0 |
| Cardiopathy | 16 | 1(?) | 1(?) | 0 |
| Muscle imaging | ||||
| Semitendinosus | 11/11 | 2/17 | 0/5 | 0/3 |
| Semimembranosus | 2/11 | 15/17 | 4/5 | 2/3 |
| Sartorius | 11/11 | 3/17 | 0/5 | 1/3 |
| Gracilis | 9/11 | 1/17 | 0/5 | 0/3 |
| Vastus intermedius/medialis | 3/11 | 10/17 | 3/5 | 2/3 |
| Adductor magnus | 2/11 | 15/17 | 4/5 | 2/3 |
| Biceps femoris | 1/11 | 16/17 | 3/5 | 2/3 |
| Peroneus | 11/11 | 11/17 | 2/5 | 1/3 |
| Soleus | 3/11 | 16/17 | 5/5 | 1/3 |
| Anterior tibialis | 5/11 | 14/17 | 1/5 | 0/3 |
| Medial gastrocnemius | 7/11 | 16/17 | 5/5 | 2/3 |
| Lateral gastrocnemius | 5/11 | 10/17 | 3/5 | 1/3 |
| Disease outcome | ||||
| Wheelchair dependency | 8 | 8 | 2 | 2 |
| Pacemaker/defibrillator | 11 | 0 | 0 | 0 |
| Heart transplantation | 2 | 0 | 0 | 0 |
| Sudden death | 3 | 0 | 0 | 0 |
AD, autosomal dominant; AR, autosomal recessive; LL, lower limbs; UL, upper limbs.
The number of studied patients is indicated as denominator if different from the total.
a
The parents of these patients were not available for study, therefore it is unknown if the mutations have arisen de novo.